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Office of Population Genomics

A Catalog of Published Genome-Wide Association Studies

Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsPDF file
Click here to read our recent Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.

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Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio

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The genome-wide association study (GWAS) publications listed here include only those attempting to assay at least 100,000 single nucleotide polymorphisms (SNPs) in the initial stage. Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies focusing only on candidate genes are excluded from this catalog. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

SNP-trait associations listed here are limited to those with p-values < 1.0 x 10-5 (see full methods for additional details). Multipliers of powers of 10 in p-values are rounded to the nearest single digit; odds ratios and allele frequencies are rounded to two decimals. Standard errors are converted to 95 percent confidence intervals where applicable. Allele frequencies, p-values, and odds ratios derived from the largest sample size, typically a combined analysis (initial plus replication studies), are recorded below if reported; otherwise statistics from the initial study sample are recorded. For quantitative traits, information on % variance explained, SD increment, or unit difference is reported where available. Odds ratios < 1 in the original paper are converted to OR > 1 for the alternate allele. Where results from multiple genetic models are available, we prioritized effect sizes (OR's or beta-coefficients) as follows: 1) genotypic model, per-allele estimate; 2) genotypic model, heterozygote estimate, 3) allelic model, allelic estimate.

Gene regions corresponding to SNPs were identified from the UCSC Genome Browser. Gene names and risk alleles are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.

Occasionally the term "pending" is used to denote one or more studies that we identified as an eligible GWAS, but for which SNP information has not yet been extracted; studies of CNVs are also noted as pending.

How to cite the GWAS Catalog:
Hindorff LA, Junkins HA, Mehta JP, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed [date of access].

How to cite the GWAS Catalog paper:
Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, and Manolio TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA. [May 27, 2009.]


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As of 11/20/09, this table includes 430 publications and 2010 SNPs.
Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Size
Replication Sample Size Region Reported Gene(s) Strongest SNP-Risk Allele Risk Allele Frequency in Controls P-value OR or beta-coefficient and [95% CI] Platform
[SNPs passing QC]
CNV
11/20/09 Paterson
October 29, 2009
Diabetes
A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both HbA1c and glucose
1,304 diabetics 531 diabetics, up to 37,436 non-diabetics NS NS NS NS NS NS Affymetrix and Illumina
[2,518,578] (imputed)
N
11/18/09 Johansson
October 22, 2009
Obesity
Linkage and Genome-wide Association Analysis of Obesity-related Phenotypes: Association of Weight With the MGAT1 Gene
Body mass index Up to 3,925 European individuals NR 1p36.33
4q34.3
2q36.1
3q28
19p13.3
19q13.3
3p14.1
5q35.3
9p22.3
11q14.1
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
rs3934834-G
rs2383393-G
rs824931-G
rs1152846-G
rs3803915-C
rs1878047-G
rs1024889-G
rs12517906-G
rs1927702-G
rs1458095-G
0.80
0.63
0.35
0.77
0.89
0.37
0.28
0.85
0.42
0.90
6 x 10-7 (females + males)
2 x 10-6 (males)
3 x 10-6 (females + males)
3 x 10-6 (females +males)
5 x 10-6 (females + males)
5 x 10-6 (females + males)
6 x 10-6 (males)
6 x 10-6 (females)
6 x 10-6 (females)
7 x 10-6 (females)
.11 [NR] kg increase
.1 [NR] kg increase
.07 [NR] kg increase
.09 [NR] kg decrease
.13 [NR] kg decrease
.06 [NR] kg decrease
.12 [NR] kg increase
.16 [NR] kg decrease
.08 [NR] kg increase
.19 [NR] kg increase
Illumina
[318,237]
N
11/18/09 " Weight Up to 3,925 European individuals NR 5q35.3
18q11.2
17q24.1
10q22.2
12p11.21
13q12.12
3q28
10q22.1
9p13.3
MGAT1
NR
NR
NR
NR
NR
NR
NR
NR
rs12517906-G
rs1840440-G
rs7209395-G
rs7919006-G
rs10844154-C
rs2765086-G
rs1152846-G
rs1816002-G
rs10972341-G
0.85
0.61
0.23
0.95
0.54
0.94
0.77
0.46
0.60
7 x 10-8 (females)
3 x 10-7 (females)
3 x 10-6 (females + males)
4 x 10-6 (females)
4 x 10-6 (females)
6 x 10-6 (females)
6 x 10-6 (females + males)
8 x 10-6 (females)
9 x 10-6 (males)
2.96 [NR] kg decrease
2.16 [NR] kg increase
1.75 [NR] kg increase
4 [NR] kg decrease
1.87 [NR] kg increase
3.86 [NR] kg decrease
1.7 [NR] kg decrease
2.08 [NR] kg increase
2.32 [NR] kg increase
Illumina
[318,237]
N
11/12/09 Kim
October 19, 2009
Neurobiol Dis
Common CYP7A1 Promoter Polymorphism Associated With Risk of Neuromyelitis Optica
Neuromyelitis optica 53 Korean cases, 240 Korean controls 40 Korean cases NS NS NS NS NS NS Illumina
[288,025]
N
11/09/09 Han
October 18, 2009
Nat Genet
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus
Systemic lupus erythematosus 1,047 Chinese Han cases, 1,205 Chinese Han controls 3,152 Chinese Han cases, 7,050 Chinese Han controls 2q32.3
1q25.1
11q24.3
8p23.1
7p12.2
7q32.1
6q23.3
11q23.3
22q11.21
2p22.3
6p21.32
6q21
10q11.22
12q24.32
5q33.1
7q11.23
16p11.2
16p11.2
STAT4
TNFSF4
ETS1
BLK
IKZF1
IRF5
TNFAIP3
NR
HIC2, UBE2L3
RASGRP3
HLA-DRB1
PRDM1, ATG5
LRRC18, WDFY4
SLC15A4
TNIP1
NR
NR
NR
rs7574865-A
rs2205960-A
rs6590330-A
rs7812879-G
rs4917014-A
rs4728142-A
rs2230926-C
rs4639966-G
rs131654-A
rs13385731-A
rs9271100-?
rs548234-G
rs1913517-A
rs1385374-A
rs10036748-A
rs1167796-G
rs7197475-A
rs7186852-A
0.33
0.27
0.34
0.76
0.68
0.13
0.04
0.30
0.48
0.85
NR
0.26
0.29
0.20
0.76
0.71
0.08
0.08
5 x 10-42
3 x 10-32
2 x 10-25
2 x 10-24
3 x 10-23
8 x 10-19
1 x 10-17
1 x 10-16
1 x 10-16
1 x 10-15
1 x 10-12
5 x 10-12
7 x 10-12
2 x 10-11
2 x 10-9
2 x 10-8
3 x 10-8
3 x 10-7
1.51 [1.43-1.61]
1.46 [1.37-1.56]
1.37 [1.29-1.45)
1.45 [1.35-1.56]
1.39 [1.30-1.47]
1.43 [1.32-1.54]
1.72 [1.52-1.94]
1.29 [1.22-1.37]
1.28 [1.20-1.35]
1.43 [1.32-1.56]
1.9 [1.59-2.27]
1.25 [1.17-1.33]
1.24 [1.17-1.32]
1.26 [1.18-1.35]
1.23 [1.15-1.33]
1.2 [1.12-1.28]
1.31 [1.20-1.46]
1.29 [1.17-1.42]
Illumina
[493,955]
N
11/09/09 Landi
October 15, 2009
Am J Hum Genet
A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma
Lung adenocarcinoma 5,739 European descent cases, 5,848 European descent controls 7,561 European descent cases, 13,818 European descent controls 15q25.1
6p21.33
5p15.33
5p15.33
6p22.1
CHRNA3, CHRNA5
BAT3, APOM
TERT
CLPTM1L
TRNAA-UGC
rs1051730-T
rs3117582-C
rs2736100-G
rs31489-C
rs4324798-A
0.35
0.10
0.50
0.59
0.09
2 x 10-51
5 x 10-12
2 x10-10
2 x 10-10
2 x 10-8
1.31 [1.27-1.36]
1.22 [1.15-1.29]
1.12 [1.08-1.16]
1.12 [1.09-1.16]
1.16 [1.09-1.24]
Illumina
[515,922]
N
11/05/09 Benyamin
October 11, 2009
Nat Genet
Common variants in TMPRSS6 are associated with iron status and erythrocyte volume
Serum markers of iron status 4,818 Australian siblings 3,470 Dutch individuals 22q12.3
6p22.1
22q12.3
6p22.1
TMPRSS6
HFE
TMPRSS6
HFE
rs855791-T
rs1800562-A
rs855791-T
rs1800562-A
0.42
0.08
0.42
0.08
1 x 10-10 (MCV)
2 x 10-8 (MCV)
5 x 10-7 (Hgb)
5 x 10-7 (Hgb)
.13 [0.09-0.17] SD decrease
.22 [0.14-0.30] SD increase
.1 [0.06-0.14] SD decrease
.2 [0.12-0.28] SD increase
Illumina & Perlegen
[427,037]
N
11/05/09 Chambers
October 11, 2009
Nat Genet
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels
Hemoglobin levels 6,316 Europeans, 9,685 Indian Asians 5,187 Europeans, 6,721 Indian Asians 22q12.3
6p22.1
TMPRSS6
HFE
rs855791-A
rs198846-A
0.53
NR
2 x 10-13
1 x 10-8
.13 [0.09-0.17] g/dl decrease
NR
Affymetrix, Illumina & Perlegen
[NR]
N
11/03/09 Ganesh
October 11, 2009
Nat Genet
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
Hematocrit 24,167 European ancestry individuals 9,456 European ancestry individuals 6q23.3
2p21
7q36.1
10q21.3
22q12.3
12q24.12
7q22.1
6p22.1
HBS1L, MYB
PRKCE
PRKAG2
HK1
TMPRSS6
SH2B3, ATXN2
TFR2
HFE
rs9483788-C
rs10168349-C
rs10224002-G
rs16926246-T
rs2413450-T
rs11065987-G
rs7385804-C
rs1800562-A
NR
NR
NR
NR
NR
NR
NR
NR
3 x 10-15
4 x 10-15
6 x 10-15
1 x 10-13
2 x 10-13
1 x 10-12
4 x 10-10
2 x 10-9
.22 [0.16-0.28] % increase
.19 [0.14-0.23] % increase
.2 [0.15-0.25] % increase
.33 [0.24-0.42] % increase
.17 [0.13-0.22] % decrease
.17 [0.12-0.22] % decrease
.15 [0.10-0.20] % decrease
.31 [0.21-0.41] % increase
Affymetrix & Illumina
[~2.5 million](imputed)
N
11/03/09 " Hemoglobin 24,167 European ancestry individuals 9,456 European ancestry individuals 22q12.3
6p22.1
7q36.1
2p21
12q24.12
10q21.3
20q13.2
TMPRSS6
HFE
PRKAG2
PRKCE
TRAFD1
HK1
TSHZ2
rs855791-A
rs1800562-A
rs10224002-G
rs10495928-G
rs11065987-A
rs16926246-T
rs6013509-A
NR
NR
NR
NR
NR
NR
NR
3 x 10-25
6 x 10-19
3 x 10-15
7 x 10-13
1 x 10-11
2 x 10-11
1 x 10-10
.09 [0.07-0.11] g/dl decrease
.16 [0.13-0.20] g/dl increase
.07 [0.05-0.09] g/dl increase
.06 [0.05-0.08] g/dl increase
.06 [0.04-0.08] g/dl increase
.11 [0.08-0.14] g/dl increase
.06 [0.05-0.08] g/dl decrease
Affymetrix & Illumina
[~2.5 million](imputed)
N
11/03/09 " Mean corpuscular hemoglobin 24,167 European ancestry individuals 9,456 European ancestry individuals 6q23.3
6p22.2
22q12.3
6p21.1
6q24.1
9p24.1
3q29
19p13.13
16p13.3
HBS1L, MYB
SLC17A3
TMPRSS6
CCND3, BYSL
CITED2
RCL1
TFRC
GCDH
ITFG3
rs7776054-G
rs1408272-G
rs2413450-T
rs9349205-A
rs628751-C
rs10758658-A
rs11915082-A
rs11085824-G
rs1122794-A
NR
NR
NR
NR
NR
NR
NR
NR
NR
7 x 10-69
4 x 10-39
9 x 10-34
8 x 10-20
1 x 10-17
2 x 10-14
8 x 10-13
1 x 10-11
3 x 10-10
.01 [0.009-0.0111] pg decrease
.02 [0.01-0.02] pg decrease
.01 [0.0005-0.007] pg decrease
.01 [0.004-0.006] pg decrease
0 [0.003-0.005] pg decrease
0 [0.004-0.006] pg decrease
0 [0.003-0.005] pg increase
0 [0.003-0.005] pg decrease
0 [0.003-0.006] pg increase
Affymetrix & Illumina
[~2.5 million](imputed)
N
11/03/09 " Mean corpuscular volume 24,167 European ancestry individuals 9,456 European ancestry individuals 6q23.3
6p22.1
22q12.3
6p21.1
6q24.1
9p24.1
22q13.33
4q12
2p16.1
3q29
7p12.2
16p13.3
19p13.13
7q22.1
10q11.21
6q21
14q23.3
HBS1L, MYB
HFE
TMPRSS6
CCND3, BYSL
CITED2
RCL1
ECGF1
KIT
BCL11A
TFRC
IKZF1
ITFG3
RTBDN
TFR2
MARCH8
CD164
FNTB
rs4895441-G
rs1800562-A
rs2413450-T
rs9349205-A
rs643381-A
rs10758658-A
rs131794-A
rs172629-G
rs2540917-C
rs9859260-C
rs12718597-A
rs7189020-T
rs7255045-A
rs7786877-G
rs11239550-G
rs9374080-C
rs4466998-A
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
7 x 10-86
1 x 10-46
3 x 10-41
1 x 10-31
5 x 10-25
3 x 10-20
1 x 10-15
1 x 10-15
1 x 10-14
8 x 10-14
5 x 10-13
2 x 10-12
2 x 10-12
3 x 10-11
1 x 10-10
4 x 10-10
5 x 10-8
.01 [0.007-0.009] fl decrease
.01 [0.010-0.014] fl increase
.01 [0.004-0.006] fl decrease
.01 [0.004-0.006] fl decrease
0 [0.003-0.005] fl decrease
0 [0.003-0.005] fl decrease
0 [0.003-0.005] fl decrease
0 [0.003-0.006] fl decrease
0 [0.002-0.004] fl decrease
0 [0.002-0.004] fl increase
0 [0.002-0.004] fl increase
0 [0.002-0.004] fl decrease
0 [0.002-0.004] fl decrease
0 [0.002-0.004] fl increase
0 [0.002-0.003] fl decrease
0 [0.002-0.003] fl decrease
0 [0.001-0.003] fl increase
Affymetrix & Illumina
[~2.5 million](imputed)
N
11/03/09 " Other erythrocyte phenotypes 24,167 European ancestry individuals 9,456 European ancestry individuals 6q23.3
6q23.3
1q23.1
7q22.1
HBS1L, MYB
HBS1L, MYB
SPTA1
EPO
rs9483788-G
rs9373124-C
rs857721-A
rs2075671-A
NR
NR
NR
NR
1 x 10-47 (RBC)
7 x 10-14 (MCHC)
1 x 10-10 (MCHC)
1 x 10-9 (RBC)
0 [0.012-0.016] 1 M cells/mm^3 increase
0 [0.002-0.003] g/dl decrease
0 [0.001-0.002] g/dl decrease
0 [0.005-0.009] 1 M cell/mm^3 increase
Affymetrix & Illumina
[~2.5 million](imputed)
N
10/30/09 Soranzo
October 11, 2009
Nat Genet
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
Hematological parameters 4,627 European individuals 9,316 European individuals 6q23.3
6p22.1
6p21.1
9p24.1
12q24.13
22q12.3
6p21.31
7q22.1
22q12.3
17q12
6p21.32
6q21
HBS1L, MYB
HFE
BYSL, CCND3
AK3
PTPN11
FBX07
BAK1
TFR2
TMPRSS6
GSDMA, ORMDL3
Intergenic
Intergenic
rs9402686-A
rs1800562-A
rs11970772-T
rs385893-C
rs11066301-G
rs9609565-G
rs210135-A
rs7385804-C
rs5756506-C
rs17609240-G
rs2227139-G
rs4947019-G
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
7 x 10-42 (MCV)
1 x 10-23 (MCV)
7 x 10-19 (MCV)
9 x 10-17 (PLT)
8 x 10-12 (PLT)
4 x 10-10 (MCV)
4 x 10-10 (PLT)
5 x 10-10 (RBC)
1 x 10-9 (MCH)
9 x 10-9 (WBC)
1 x 10-7 (WBC)
8 x 10-6 (MCV)
.82 [0.70-0.94] fl increase
1.41 [1.13-1.69] fl increase
.58 [0.44-0.70] fl increase
6.26 [4.78-7.74] 10^9/l increase
4.65 [3.32-5.98] 10^9/l increase
.37 [0.25-0.49] fl increase
5.44 [3.74-7.14] 10^9/l increase
.01 [0.004-0.008] 10^12/l increase
.14 [0.10-0.18] pg increase
.02 [0.01-0.03] 10^9/l increase
.02 [0.01-0.03] 10^9/l increase
.01 [0.003-0.011] fl decrease
Affymetrix and Illumina
[~2.11 million] (imputed)
N
10/30/09 " Mean platelet volume 4,627 European individuals 9,316 European individuals 12q24.31
7q22.3
3p14.3
17q11.2
10q21.3
1q32.1
11p15.5
1q24.3
2p23.1
20p13
18q22.2
15q22.2
5q33.3
20p12.1
12q13.13
WDR66
PIK3CG
ARHGEF3
TAOK1
JMJD1C
TMCC2
BET1L
DNM3
EHD3
SIRPA
CD226
TPM1
NR
NR
NR
rs7961894-T
rs342293-G
rs12485738-A
rs2138852-T
rs2393967-A
rs1668873-G
rs11602954-G
rs10914144-C
rs647316-A
rs6136489-T
rs893001-C
rs11071720-T
rs1473247-C
rs6110278-T
rs10506328-A
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
3 x 10-44
2 x 10-33
6 x 10-31
1 x 10-22
3 x 10-21
1 x 10-20
1 x 10-14
2 x 10-14
3 x 10-11
8 x 10-11
1 x 10-10
2 x 10-8
3 x 10-7
4 x 10-7
5 x 10-7
.03 [0.027-0.035] fl increase
.02 [0.013-0.017] fl increase
.02 [0.013-0.017] fl increase
.02 [0.012-0.020] fl increase
.01 [0.01-0.018] fl increase
.01 [0.01-0.014] fl increase
.01 [0.009-0.017] fl increase
.01 [0.009-0.017] fl increase
.01 [0.006-0.014] fl increase
.01 [0.006-0.014] fl increase
.01 [0.007-0.015] fl increase
.01 [0.007-0.015] fl increase
.01 [0.004-0.012] fl decrease
.01 [0.005-0.013] fl increase
.01 [0.004-0.012] fl increase
Affymetrix and Illumina
[~2.11 million] (imputed)
N
10/23/09 Weiss
October 08, 2009
Nature
A genome-wide linkage and association scan reveals novel loci for autism
Autism 1,031 families with 1,553 affected offspring (multiple races/ethnicities) 2,073 trios (multiple races/ethnicities) 5p15.2 SEMA5A, TAS2R1 rs10513025-? NR 3 x 10-7 1.81 [NR] Affymetrix
[~365,000]
N
10/16/09 Rivadeneira
October 04, 2009
Nat Genet
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies
Bone mineral density (hip) 19,195 European individuals NR 5q14.3
1p31.3
7q21.3
6q25.1
11p15.2
3p22.1
11p11.2
8q24.12
17q21.31
1p36.12
16q24.1
4q22.1
17q21.31
MEF2C
GPR177
FLJ42280
ESR1
SOX6
CTNNB1
ARHGAP1
TNFRSF11B
HDAC5
ZBTB40
FOXL1
MEPE
CRHR1
rs1366594-C
rs2566755-C
rs7781370-T
rs2941740-G
rs7117858-G
rs87938-A
rs7932354-T
rs11995824-G
rs228769-G
rs6426749-C
rs10048146-G
rs1471403-T
rs9303521-T
0.45
0.21
0.34
0.43
0.20
0.45
0.29
0.55
0.20
0.17
0.19
0.34
0.46
1 x 10-13
2 x 10-12
5 x 10-12
2 x 10-10
6 x 10-10
8 x 10-10
4 x 10-9
7 x 10-9
2 x 10-8
9 x 10-8
2 x 10-7
8 x 10-7
4 x 10-6
.09 [0.07-0.11] sd decrease
.1 [0.07-0.13] sd increase
.08 [0.06-0.10] sd decrease
.07 [0.05-0.09] sd increase
.09 [0.06-0.12] sd increase
.07 [0.05-0.09] sd decrease
.07 [0.05-0.09] sd increase
.07 [0.05-0.09] sd decrease
.08 [0.05-0.11] sd increase
.08 [0.05-0.11] sd increase
.09 [0.06-0.12] sd decrease
.06 [0.04-0.08] sd increase
.06 [0.04-0.07] sd decrease
Affymetrix & Illumina
[2,543,686](imputed)
N
10/16/09 " Bone mineral density (spine) 19,195 European individuals NR 13q14.11
8q24.12
1p31.3
6q25.1
7q21.3
1p36.12
7p14.1
11p13
18q21.33
12q13.13
17q21.31
16q24.1
2p16.2
4q22.1
11q13.2
17q21.31
AKAP11
TNFRSF11B
GPR177
ESR1
FLJ42280
ZBTB40
STARD3NL
DCDC5
TNFRSF11A
SP7
CRHR1
FOXL1
SPTBN1
MEPE
LRP5
HDAC5
rs9533090-T
rs2062377-T
rs1430742-C
rs2504063-A
rs4729260-G
rs7524102-G
rs1524058-T
rs16921914-A
rs884205-A
rs2016266-G
rs9303521-T
rs10048146-G
rs11898505-A
rs1471403-T
rs599083-G
rs228769-G
0.50
0.44
0.21
0.40
0.32
0.17
0.40
0.27
0.27
0.32
0.46
0.19
0.34
0.34
0.31
0.20
5 x 10-25
4 x 10-16
3 x 10-13
6 x 10-11
2 x10-10
3 x 10-10
1 x 10-9
2 x 10-9
9 x 10-9
1 x 10-8
1 x 10-8
2 x 10-8
2 x 10-8
2 x 10-8
5 x 10-8
4 x 10-6
.12 [0.10-0.14] sd decrease
.09 [0.07-0.11] sd increase
.11 [0.07-0.14] sd increase
.08 [0.06-0.10] sd decrease
.08 [0.05-0.11] sd decrease
.09 [0.06-0.12] sd increase
.07 [0.05-0.09] sd decrease
.08 [0.05-0.11] sd increase
.08 [0.05-0.11] sd decrease
.07 [0.05-0.09] sd increase
.07 [0.05-0.09] sd decrease
.09 [0.06-0.12] sd decrease
.07 [0.05-0.09] sd increase
.07 [0.05-0.09] sd increase
.07 [0.05-0.09] sd decrease
.07 [0.04-0.10] sd increase
Affymetrix & Illumina
[2,543,686](imputed)
N
11/04/09 Hicks
October 02, 2009
PLoS Genet
Genetic determinants of circulating sphingolipid concentrations in European populations
Sphingolipid Concentrations 4,110 European individuals NR 14q23.2
19p13.2
4p12
20p12.1
11q12.3
SGPP1
LASS4
ATP10D
SPTLC3
FADS
rs7157785-A
rs7258249-G
rs10938494-A
rs680379-A
rs1000778-A
0.19
0.48
0.23
0.34
0.32
9 x 10-66 (SM 14:0Mol%)
2 x 10-27 (SM 18:1Mol%)
8 x 10-19 (GluCer)
8 x 10-15 (Cer24:0)
7 x 10-13 (SM 16:1)
0 [0.001-0.002] mol % increase
0 [0.0007-0.001] mol % increase
.06 [0.04-0.07] unit increase
.1 [0.08-0.13] mol % increase
.62 [0.45-0.78] unit decrease
Illumina
[318,237]
N
10/06/09 Roeske
September 29, 2009
Mol Psychiatry
First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children
Speech perception in dyslexia 200 dyslexic German children 186 dyslexic German children 4q32.1
10q26.3
CTSO, TDO2, PDGFC
NR
rs4234898-T
rs4751178-G
NR
NR
5 x 10-8 (MMNb)
7 x 10-6 (MMNb)
NR
NR
Illumina
[297,086]
N
10/06/09 Nakanishi
September 25, 2009
PLoS Genet
A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1
Myopia (pathological) 297 Japanese cases, 934 Japanese controls 533 Japanese cases, 977 Japanese controls 11q24.1 BLID, LOC399959 rs577948-G 0.52 2 x 10-7 1.37 [1.21-1.54] Illumina
[411,777]
N
10/05/09 Latourelle
September 22, 2009
BMC Med Genet
Genomewide Association Study for Onset Age in Parkinson Disease
Parkinson disease (age of onset) 857 white familial cases, 440 white idiopathic cases 747 Italian idiopathic cases 11p13
15q12
18q12.1
1q23.3
2p14
QSER1, PRRG4
OCA2
DSG3
ATF6
AAK1
rs10767971-T
rs17565841-A
rs1941184-C
rs10918270-A
rs7577851-T
NR
NR
NR
NR
NR
5 x 10-7
3 x 10-6
4 x 10-6
8 x 10-6
9 x 10-6
3.24 [NR] years older
2.84 [NR] years younger
2.28 [NR] years younger
2.26 [NR] years younger
6.85 [NR] years younger
Illumina and Perlegen
[1,861,750] (imputed)
N
10/05/09 Gudmundsson
September 20, 2009
Nat Genet
Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility
Prostate cancer Up to 1,968 Icelandic cases, 35,382 Icelandic controls Up to 11,806 European descent cases, 12,387 European descent controls 8q24.21
8q24.21
8q24.21
11q13.2
19q13.2
3q21.3
8q24.21
17q12
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
rs1447295-A
rs16902094-G
rs16901979-A
rs11228565-A
rs8102476-C
rs10934853-A
rs445114-T
rs4430796-A
0.11
0.15
0.04
0.20
0.54
0.28
0.64
0.52
2 x 10-19
6 x 10-15
3 x 10-14
7 x 10-12
2 x 10-11
3 x 10-10
5 x 10-10
8 x 10-6
1.58 [1.43-1.74]
1.21 [1.15-1.26]
1.8 [1.55-2.09]
1.23 [1.16-1.31]
1.12 [1.08-1.15]
1.12 [1.08-1.16]
1.14 [1.10-1.19]
1.19 [1.10-1.28]
Illumina
[310,520]
N
09/30/09 Le Clerc
September 15, 2009
J Infect Dis
Genomewide Association Study of a Rapid Progression Cohort Identifies New Susceptibility Alleles for AIDS (ANRS Genomewide Association Study 03).
AIDS 85 French cases, 2,049 French controls NR 1p13.3
12p12.1
9p23
1q23.3
8q22.3
2q12.1
9p22.3
Intergenic
SOX5
Intergenic
RXRG
Intergenic
TGFBRAP1
NR
rs4118325-G
rs1522232-C
rs1360517-A
rs10800098-A
rs3108919-C
rs1020064-G
rs1556032-C
0.81
0.52
0.06
0.05
0.27
0.23
0.49
6 x 10-7
2 x 10-6
3 x 10-6
4 x 10-6
4 x 10-6
7 x 10-6
9 x 10-6
4.17 [2.17-8.33]
2.22 [1.59-3.13]
3.09 [2.00-4.78]
3.29 [2.08-5.20]
2.13 [1.56-2.91]
2.94 [1.75-5.00]
2.05 [1.48-2.84]
Illumina
[291,119]
N
09/30/09 Suppiah
September 13, 2009
Nat Genet
IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy
Response to Hepatitis C treatment 131 European ancestry responders, 162 European ancestry non-responders 261 European responders, 294 European non-responders 19q13.2 IL28A, IL28B rs8099917-G NR 9 x 10-9 1.98 [1.57-2.52] Illumina
[311,159]
N
09/30/09 Tanaka
September 13, 2009
Nat Genet
Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C
Response to Hepatitis C treatment 72 Japanese responders, 82 Japanese non-responders 122 Japanese responders, 50 Japanese non-responders 19q13.2 IL28B rs8099917-G 0.12 3 x 10-32 27.1 [14.6-50.3] Affymetrix
[621,220]
N
09/30/09 Heinzen
September 11, 2009
J Alzheimers Dis
Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer's Disease
Alzheimer's Disease 331 cases, 368 controls NR 19q13.32
13q13.2
1p31.1
10q24.31
6q24.3
TOMM40, APOE
RFC3
TTLL7
PAX2
SASH1
rs2075650-?
rs690705-?
rs7539409-?
rs4509693-?
rs9390537-?
0.15
0.25
0.18
0.18
0.22
3 x 10-11
6 x 10-7
1 x 10-6
6 x 10-6
8 x 10-6
NR
NR
NR
NR
NR
Illumima
[~550,000]
N
09/30/09 Sha
September 09, 2009
BMC Med Genet
Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis
Amyotrophic lateral sclerosis (interaction) 276 Caucasian cases, 271 Caucasian controls NR NS NS NS NS NS NS Illumina
[549,062]
N
09/29/09 Harold
September 06, 2009
Nat Genet
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
Alzheimer's disease 3,941 European ancestry cases, 7,848 European ancestry controls 2,023 European ancestry cases, 2,340 European ancestry controls 19q13.32
8p21.1
11q14.2
APOE, TOMM40
CLU
PICALM
rs2075650-?
rs11136000-?
rs3851179-?
0.15
0.60
0.63
2 x 10-157
9 x 10-10
1 x 10-9
2.53 [2.37-2.71]
1.16 [1.11-1.22]
1.16 [1.11-1.22]
Illumina
[529,205]
N
09/29/09 Lambert
September 06, 2009
Nat Genet
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
Alzheimer's disease 2,032 French cases, 5,328 French controls 3,978 European cases, 3,297 European controls 19q13.32
1q32.2
8p21.1
APOE
CR1
CLU
rs2075650-?
2-SNP haplotype
3-SNP haplotype
0.90
0.18
0.26
2 x 10-16
3 x 10-10 (AA)
6 x 10-10 (CCG)
NR
1.22 [1.15-1.30]
1.22 [1.14-1.29]
Illumina
[537,029]
N
09/29/09 Rung
September 06, 2009
Nat Genet
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia
Type 2 diabetes and other traits 679 French cases, 697 French controls 5,579 European cases, 7,096 European controls 10q25.2
6p22.3
2q36.3
4p16.1
8q24.11
5q14.3
TCF7L2
CDKAL1
LOC64673, IRS1
WFS1, PPP2R2C
SLC30A8
LOC72901, CETN3
rs7903146-T
rs4712523-G
rs2943641-C
rs4689388-T
rs13266634-C
rs12518099-C
0.27
0.32
0.63
0.57
0.68
0.23
1 x 10-30
2 x 10-12
9 x 10-12
1 x 10-8
8 x 10-8
7 x 10-7
1.48 [1.39-1.57]
1.2 [1.14-1.26]
1.19 [1.13-1.25]
1.16 [1.10-1.21]
1.16 [1.10-1.22]
1.16 [1.10-1.22]
Illumina
[392,365]
N
09/29/09 van Es
September 06, 2009
Nat Genet
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis 2,323 European descent cases, 9,013 European descent controls 2,532 European descent cases, 5,940 European descent controls 19p13.11
9p21.2
9p21.2
Xq13.3
12p12.3
11q22.1
9p21.2
Xp22.32
UNC13A
MOBKL2B, IFNK, C9orf72
MOBKL2B, IFNK, C9orf72
NR
NR
NR
NR
NR
rs12608932-?
rs2814707-?
rs3849942-?
rs5937496-?
rs9971637-?
rs2405657-?
rs774359-?
rs5916687-?
0.34
0.23
0.23
0.13
0.05
0.66
0.25
0.27
3 x 10-14
7 x 10-9
1 x 10-8
6 x 10-7
2 x 10-6
3 x 10-6
3 x 10-6
3 x 10-6
1.25 [NR]
1.22 [NR]
1.23 [NR]
1.38 [NR]
1.48 [NR]
1.19 [NR]
1.19 [NR]
1.22 [NR]
Illumina
[292,768]
N
10/02/09 Need
September 04, 2009
Hum Mol Genet
A Genome-wide Study of Common SNPs and CNVs in Cognitive Performance in the CANTAB battery
Cognitive performance 1,295 individuals NR 15q23
Xp22.2
3p22.3
13q34
16p12.1
17q21.32
8q24.13
21q11.2
17q25.2
14q23.2
15q21.3
2q31.1
5p15.31
11q14.2
12p13.1
15q12
1q23.2
20p12.3
21q21.3
3q27.2
16q23.3
3p25.1
7q31.1
18q22.1
1q41
3p22.1
3q26.32
9p22.2
11p12
13q12.3
14q23.2
1p32.1
1q32.1
7p15.1
12q24.23
19q12
1p36.13
3q13.33
4q28.1
7p14.1
7q31.1
8q12.1
11q13.5
6p21.2
18q12.3
Xp22.31
13q14.11
CORO2B
HCCS
ARPP-21
Intergenic
Intergenic
Intergenic
FAM91A1
NRIP1
SEC14L1
MTHFD1
UNC13C
GORASP2
Intergenic
C11orf73
GRIN2B
GABRB3
VANGL2
PLCB1
JAM2
EHHADH
Intergenic
GRIP2
IMMP2L
C18orf4, DSEL
FAM177B
MOBP
Intergenic
SH3GL2
API5
FLT1
MTHFD1
JUN
MDM4
CPVL
CCDC64
TSHZ3
FAM131C
FBXO40
FAT4
VPS41
IMMP2L
TOX
CAPN5
C6orf129
RIT2
VCX3B
DNAJC15
rs11856323-?
rs5934953-?
rs6799705-?
rs767210-?
rs2203512-?
rs2326017-?
rs10481151-?
rs2229741-?
rs3744064-?
rs10498514-?
rs1897031-?
rs4668356-?
rs7729273-?
rs6592284-?
rs2160519-?
rs8043440-?
rs16832015-?
rs6056209-?
rs17001239-?
rs7374394-?
rs4082514-?
rs9036-?
rs10279573-?
rs2124349-?
rs6683071-?
rs816488-?
rs7612209-?
rs10810865-?
rs10501293-?
rs17086609-?
rs2295639-?
rs4601609-?
rs12143943-?
rs2252521-?
rs11064994-?
rs1078373-?
rs9442235-?
rs3772130-?
rs12639834-?
rs11984145-?
rs12531640-?
rs960089-?
rs3781684-?
rs904251-?
rs8085804-?
rs7892812-?
rs1324015-?
0.08
0.02
0.05
0.11
0.14
0.30
0.14
0.47
0.03
0.02
0.18
0.06
0.20
0.21
0.06
0.17
0.01
0.43
0.12
0.20
0.03
0.19
0.14
0.05
0.20
0.04
0.40
0.13
0.25
0.35
0.02
0.05
0.41
0.34
0.06
0.37
0.42
0.23
0.36
0.05
0.13
0.07
0.11
0.38
0.37
0.47
0.42
1 x 10-7 (PAL8)
1 x 10-7 (PAL6)
2 x 10-7 (PAL8)
3 x 10-7 (PAL6)
3 x 10-7 (PRM)
3 x 10-7 (SWM strategy)
4 x 10-7 (PRM)
6 x 10-7 (SRM)
7 x 10-7 (PAL6)
8 x 10-7 (SWM strategy)
1 x 10-6 (PRM)
1 x 10-6 (PAL8)
1 x 10-6 (SSP)
2 x 10-6 (IED)
2 x 10-6 (IED)
2 x 10-6 (SRM)
2 x 10-6 (IED)
2 x 10-6 (RVP)
2 x 10-6 (PRM)
2 x 10-6 (IED)
3 x 10-6 (PC1)
3 x 10-6 (PAL6)
3 x 10-6 (IED)
4 x 10-6 (IED)
4 x 10-6 (PC1)
4 x 10-6 (IED)
4 x 10-6 (IED)
4 x 10-6 (PAL6)
5 x 10-6 (SWM Strategy)
5 x 10-6 (IED)
5 x 10-6 (SWM Strategy)
5 x 10-6 (PRM)
5 x 10-6 (PAL8)
5 x 10-6 (PAL8)
6 x 10-6 (PAL6)
6 x 10-6 (SSP)
6 x 10-6 (PC1)
6 x 10-6 (PC1)
6 x 10-6 (SWM Strategy)
6 x 10-6 (PAL8)
6 x10-6 (IED)
6 x 10-6 (PAL6)
7 x 10-6 (VRM)
7 x 10-6 (SWM Strategy)
8 x 10-6 (VRM)
8 x 10-6 (SSP)
9 x 10-6 (PC1)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Illumina
[475,971]
N
09/28/09 Paterson
September 03, 2009
Arterioscler Thromb Vasc Biol
Genome-Wide Association Identifies the ABO Blood Group as a Major Locus Associated With Serum Levels of Soluble E-Selectin
Serum soluble E-selectin 685 individuals with type 1 diabetes 477 nondiabetic siblings 9q34.2 ABO rs579459-C 0.20 1 x 10-29 NR Illumina
[~841,000]
N
09/28/09 Tonjes
September 03, 2009
Hum Mol Genet
Genetic Variation in GPR133 is Associated with Height - Genome Wide Association Study in the Self-contained Population of Sorbs
Height 929 Sorbian individuals, 2,986 Caucasian individuals 2,772 German individuals 12q24.33 GPR133 rs1569019-? NR 5 x 10-8 .95 [0.61-1.29] cm increase Affymetrix
[390,619]
N
09/28/09 De Moor
September 02, 2009
Med Sci Sports Exerc
Genome-Wide Association Study of Exercise Behavior in Dutch and American Adults
Exercise (leisure time) 1,644 Dutch individuals, 978 European individuals NR 10q23.2
18p11.32
2q33.1
PAPSS2
C18orf2
DNAPTP6
rs10887741-T
rs8097348-G
rs12612420-A
NR
NR
NR
4 x 10-6
7 x 10-6
8 x 10-6
1.32 [1.17-1.49]
1.36 [1.19-1.56]
1.43 [1.22-1.67]
Affymetrix and Perlegen
[~1.6 million] (imputed)
N
09/29/09 Ising
September 01, 2009
Arch Gen Psychiatry
A genomewide association study points to multiple loci that predict antidepressant drug treatment outcome in depression
Response to antidepressant treatment 339 German individuals 1,193 German individuals NS NS NS NS NS NS Illumina
[389,251] (pooled)
N
09/28/09 McClay
September 01, 2009
Mol Psychiatry
Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics
Treatment response to antipsychotics 738 cases NR 4p15.1
9q33.3
12q23.1
2q14.3
1q21.3
6p24.1
15q13.3
3q28
6p21.33
Intergenic
Intergenic
ANKS1B
CNTNAP5
Intergenic
Intergenic
TRPM1
Intergenic
Intergenic
rs17390445-?
rs888219-?
rs7968606-?
rs17727261-?
rs10888501-?
rs1040994-?
rs17815774-?
rs7635839-?
rs12526186-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
1 x10-7 (ziprasidone)
2 x 10-7 (risperidone)
3 x 10-7 (olanzapine)
5 x 10-7 (risperidone)
1 x 10-6 (olanzapine)
2 x 10-6 (olanzapine)
3 X 10-6 (risperidone)
3 x 10-6 (olanzapine)
3 x 10-6 (risperidone)
17 [NR] % of variance explained
11 [NR] % of variance explained
10 [NR] % of variance explained
10 [NR] % of variance explained
9 [NR] % of variance explained
9 [NR] % of variance explained
9 [NR] % of variance explained
9 [NR] % of variance explained
9 [NR] % of variance explained
Affymetrix & Perlegen
[492,900]
N
09/10/09 Spain
September 01, 2009
Cancer Res
Colorectal Cancer Risk Is Not Associated with Increased Levels of Homozygosity in a Population from the United Kingdom
Colorectal cancer 921 white cases, 929 white controls 1,214 white cases, 1,435 white controls NS NS NS NS NS NS Illumina
[486,303]
N
09/09/09 Laje
August 31, 2009
Pharmacogenet Genomics
Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients
Response to antidepressant treatment 90 white cases, 90 white controls 30 white cases, 1,652 white controls NS NS NS NS NS NS Illumina
[100,864]
N
09/09/09 Hancock
August 28, 2009
PLoS Genet
Genome-wide association study implicates chromosome 9q21.31 as a susceptibility locus for asthma in mexican children
Asthma (childhood onset) 492 Mexican trios 177 Mexican trios 9q21.31 TLE4, CHCHD9 rs2378383-? 0.78 7 x 10-7 1.64 [1.32-2.04] Illumina
[520,767]
N
09/24/09 Liu
August 28, 2009
PLoS ONE
Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males
Obesity and osteoporosis 499 Caucasian males, 501 Caucasian females 1,370 Caucasian males, 1,985 Caucasian females 11p15.1
11p15.1
SOX6
SOX6
rs297325-T
rs4756846-T
0.23
0.12
4 x 10-7 (BMI-BMD, males)
5 x 10-7 (BMI-BMD, males)
NR
NR
Affymetrix
[379,319]
N
09/09/09 Shuldiner
August 26, 2009
JAMA
Association of cytochrome P450 2C19 genotype with the antiplatelet effect and clinical efficacy of clopidogrel therapy
Response to clopidogrel therapy 429 Amish individuals 140 white, 83 African American, and 4 unspecified individuals NS NS NS NS NS NS Affymetrix
[400,230]
N
09/09/09 Cui
August 18, 2009
Gastroenterology
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk
Esophageal cancer 188 Japanese cases, 938 Japanese controls 699 Japanese cases, 1,482 Japanese controls 12q24.12
4q23
BRAP, ALDH2
ADH6, ADH1B
rs671-A
rs1229984-G
0.36
0.35
3 x 10-24
8 x 10-24
1.67 [1.58-1.76]
1.79 [1.69-1.88]
Illumina
[359,195]
N
09/09/09 Ge
August 16, 2009
Nature
Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance
Response to Hepatitis C treatment 871 Caucasian, 191 African American, and 75 Hispanic participants NR 19q13.2
6q21
4q34.3
IL28B
AKD2
Intergenic
rs12979860-C
rs9400317-?
rs17067123-?
0.72
NR
NR
1 x 10-28 (combined)
7 x 10-6 (combined)
8 x 10-6 (combined)
2 [1.8-2.3] (European-Americans)
NR
NR
Illumina
[565,759]
N
09/04/09 Papaemmanuil
August 16, 2009
Nat Genet
Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia
Acute lymphoblastic leukemia (childhood) 503 European pediatric cases, 1,438 European pediatric controls 404 European pediatric cases, 960 European pediatric controls 7p12.2
10q21.2
14q11.2
IKZF1
ARID5B
CEBPE
rs4132601-C
rs7089424-C
rs2239633-G
0.28
0.34
0.52
1 x 10-19
7 x 10-19
3 x 10-7
1.69 [1.58-1.81]
1.65 [1.54-1.76]
1.34 [1.22-1.45]
Illumina
[291,473]
N
09/11/09 Trevino
August 16, 2009
Nat Genet
Germline genomic variants associated with childhood acute lymphoblastic leukemia
Acute lymphoblastic leukemia (childhood) 317 European descent cases, 17,958 European descent controls NR 10q21.2
7p12.2
12q24.22
6q24.1
19q13.31
1q43
2q36.1
1p31.1
3q26.32
1q31.3
1q44
10p11.21
12p13.32
18p11.32
ARID5B
IKZF1, DDC
KRTHB5
Intergenic
ZNF230
RYR2
KCNE4
SIAT7C
KCNMB2
Intergenic
OR2C3
PARD3
C12orf5
Intergenic
rs10821936-C
rs11978267-G
rs2089222-A
rs11155133-G
rs2191566-G
rs7554607-A
rs12621643-T
rs10873876-T
rs9290663-T
rs6428370-G
rs1881797-C
rs563507-A
rs10849033-G
rs1879352-C
0.34
0.27
0.03
0.01
0.28
0.56
0.28
0.15
0.13
0.32
0.18
0.04
0.02
0.16
1 x 10-15
8 x 10-11
8 x 10-8
3 x 10-7
4 x 10-7
2 x 10-6
3 x 10-6
4 x 10-6
6 x 10-6
7 x 10-6
7 x 10-6
9 x 10-6
9 x 10-6
9 x 10-6
1.91 [1.60-2.20]
1.69 [1.40-1.90]
2.26 [1.60-3.0]
3.62 [2.10-6.00]
1.52 [1.20-1.70]
1.49 [1.20-1.70]
1.48 [1.20-1.70]
1.55 [1.20-1.80]
1.58 [1.20-1.90]
1.43 [1.20-1.60]
1.52 [1.20-1.80]
2 [1.40-2.70]
2.55 [1.60-3.80]
1.53 [1.20-1.80]
Affymetrix
[307,944]
N
09/04/09 Alkelai
August 13, 2009
Psychopharmacology
Genome-wide association study of antipsychotic-induced parkinsonism severity among schizophrenia patients
Response to antipsychotic treatment 199 cases, 198 controls NR 2q24.3 FIGN rs12476047-C NR 3 x 10-6 3.21 [1.97-5.25] Affymetrix & Perlegen
[495,172]
N
09/09/09 Potkin
August 07, 2009
PLoS ONE
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease
Hippocampal atrophy 172 cases, 209 controls NR 21q21.1
5q21.3
9q21.13
14q22.1
13q31.1
20q11.23
20q13.31
5q14.1
7p12.2
7q21.11
9q21.31
12q14.3
1q21.3
20q11.23
5q14.1
12q13.11
5p14.1
5p15.1
7p21.3
11q24.3
8q24.12
FDPSP
EFNA5
PRUNE2
FRMD6, AL079307.7
Intergenic
C20orf132
ZBP1
AC104108.3, SCAMP1, LHFPL2
IKZF1, AC020743.7
MAGI2
RP11, 232A1.1
CAND1
AL157404.18, S100A5
RPN2
ARSB
ARID2, SFRS2IP
Intergenic
AC026790.5
Intergenic
Intergenic
MAL2
rs1888414-?
rs10074258-?
rs10781380-?
rs11626056-?
rs4773460-?
rs8115854-?
rs2073145-?
rs6881634-?
rs10276619-?
rs11525066-?
rs10867752-?
rs1082714-?
rs4845552-?
rs6031882-?
rs337847-?
rs1373549-?
rs7727656-?
rs682748-?
rs9918508-?
rs6590322-?
rs1364705-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
2 x 10-7
2 x 10-7
7 x 10-7
1 x 10-6
2 x 10-6
2 x 10-6
2 x 10-6
2 x 10-6
3 x 10-6
3 x 10-6
3 x 10-6
5 x 10-6
6 x 10-6
6 x 10-6
7 x 10-6
8 x 10-6
8 x 10-6
8 x 10-6
8 x 10-6
9 x 10-6
9 x 10-6
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Illumina
[516,645]
N
09/04/09 Tse
August 05, 2009
Am J Hum Genet
Genome-wide Association Study Reveals Multiple Nasopharyngeal Carcinoma-Associated Loci within the HLA Region at Chromosome 6p21.
Nasopharyngeal carcinoma 277 Han Chinese cases, 285 Han Chinese controls 635 Han Chinese cases, 1,640 Han Chinese controls 6p21.33
6p22.1
6p22.1
HLA-A
GABBR1
HLA-F
rs2517713-A
rs29232-A
rs3129055-G
0.62
0.46
0.31
4 x 10-20
9 x 10-17
7 x 10-11
1.88 [1.65-2.15]
1.67 [1.48-1.88]
1.51 [1.34-1.71]
Illumina
[480,365]
N
09/14/09 Broderick
August 04, 2009
Cancer Res
Deciphering the Impact of Common Genetic Variation on Lung Cancer Risk: A Genome-Wide Association Study
Lung cancer 1,952 European cases, 1,438 European controls 5,608 European cases, 6,767 European controls 15q25.1
6p21.33
5p15.33
10q23.31
15q15.2
3p24.1
2p14
CHRNA3
BAT3
CLPTM1L
NR
TGM5
NR
NR
rs8034191-?
rs3117582-?
rs4975616-?
rs1926203-?
rs748404-?
rs1530057-?
rs4254535-?
NR
NR
NR
NR
NR
NR
NR
3 x 10-26
4 x 10-10
3 x 10-9
1 x 10-6
1 x 10-6
3 x 10-6
5 x 10-6
1.29 [1.23-1.35]
1.24 [1.16-1.33]
1.15 [1.10-1.20]
1.12 [NR]
1.15 [1.09-1.20]
1.26 [NR]
1.12 [NR]
Illumina
[511,919]
N
09/04/09 Chambers
August 03, 2009
Diabetes
Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type-2 diabetes amongst Indian Asians and European whites
Fasting plasma glucose 7,474 Indian Asian individuals 4,462 European controls 11q21 MTNR1B rs2166706-G 0.46 2 x 10-9 .07 (0.04-0.09) mmol/L increase Illumina
[up to 544,390]
N
09/04/09 Grant
August 03, 2009
J Pediatr
A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24
Nonsyndromic cleft lip with or without cleft palate 111 European ancestry cases, 5,951 European ancestry controls NR 18q22.3
8q24.21
Intergenic
Intergenic
rs17085106-?
rs987525-?
0.018
0.22
4 x 10-8
9 x 10-8
4.07 [2.37-7.00]
2.09 [1.59-2.76]
Illumina
[495,858]
N
09/04/09 Amundadottir
August 02, 2009
Nat Genet
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer
Pancreatic cancer 1,771 European ancestry cases, 1,805 European ancestry controls 2,120 European ancestry cases, 2,127 European ancestry controls 9q34.2 ABO rs505922-T 0.35 5 x 10-8 1.2 [1.12-1.28] Illumina
[558,542]
N
09/04/09 Song
August 02, 2009
Nat Genet
A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2
Ovarian cancer 1,817 European ancestry cases, 2,353 European ancestry controls 6,944 European ancestry cases, 9,477 European ancestry controls 9p22.2 BNC2, LOC648570, CNTLN rs3814113-T 0.68 5 x 10-19 1.22 [1.16-1.27] Illumina
[up to ~2,000,000] (imputed)
N
08/21/09 Wu
August 02, 2009
Nat Genet
Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer
Bladder cancer 969 Caucasian cases, 957 Caucasian controls 5,698 US and European cases, 38,633 US and European controls 8q24.3 PSCA rs2294008-T 0.46 2 x 10-10 1.15 [1.10-1.20] Illumina
[556,429]
N
09/04/09 Comabella
August 01, 2009
Arch Neurol
Genome-wide scan of 500,000 single-nucleotide polymorphisms among responders and nonresponders to interferon beta therapy in multiple sclerosis
Response to interferon beta therapy 53 responders, 53 non-responders 49 responders, 45 non-responders NS NS NS NS NS NS Affymetrix
[428,867](pooled)
N
08/21/09 Nakano
July 22, 2009
Proc Natl Acad Sci USA
Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population
Glaucoma (primary open-angle) 418 Japanese cases, 300 Japanese controls 409 Japanese cases, 448 Japanese controls NS NS NS NS NS NS Affymetrix
[331,838]
N
08/21/09 Skibola
July 20, 2009
Nat Genet
Genetics variants at 6p21.33 are associated with susceptibility to follicular lymphoma
Follicular lymphoma 189 European ancestry cases, 592 European controls 456 European ancestry cases, 2,785 European ancestry controls 6p21.33 STG, PSORS1 rs6457327-C 0.62 5 x 10-11 1.69 [1.43-2.00] Illumina
[~500,000] (pooled)
N
08/12/09 Adeyemo
July 17, 2009
PLoS Genet
A Genome-Wide Association Study of Hypertension and Blood Pressure in African Americans
Hypertension 509 African American cases, 508 African American controls 366 West African cases, 614 West African controls 15q22.1
4q23
ALDH1A2
ADH7
rs1550576-?
rs991316-T
0.86
0.45
3 x 10-6
5 x 10-6
1.92 [NR]
1.62 [NR]
Affymetrix
[808,465]
N
08/04/09 Benjamin
July 13, 2009
Nat Genet
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry
Atrial fibrillation 3,413 cases, 37,105 referents 2,145 cases, 4,073 controls 4q25
16q22.3
1p36.22
PITX2
ZFHX3
MTHFR, NPPA
rs17042171-A
rs2106261-T
rs17375901-T
0.12
0.174
0.053
4 x 10-63
2 x 10-15
6 x 10-7
1.65
1.25
1.26
Affymetrix & Illumina
[~2.5 million] (imputed)
N
07/30/09 Gudbjartsson
July 13, 2009
Nat Genet
A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke
Atrial fibrillation 2,385 European cases, 33,752 European controls up to 2,427 European cases, 3,379 European controls 4q25
16q22.3
Intergenic
ZFHX3
rs2200733-?
rs7193343-T
0.12
NR
1 x 10-14
1 x 10-10
1.42 [NR]
1.21 [1.14-1.29]
Illumina
[303,136]
N
07/24/09 Nolte
July 09, 2009
PLoS ONE
Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies
Cardiac repolarisation 3,558 Caucasian individuals 29,527 Caucasian individuals 1q23.3
6q22.31
OLFML2B, NOS1AP
SLC35F1, C6orf204, PLN
rs12143842-T
rs11153730-C
0.25
0.50
1 x 10-83
2 x 10-29
.18 [NR] unit increase
.09 [NR] unit increase
Affymetrix & Illumina
[~2,399,142] (imputed)
N
07/24/09 Tonjes
July 08, 2009
Eur J Hum Genet
Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany
Body mass index and fat mass 948 Sorbian individuals NR NS NS NS NS NS NS Affymetrix
[390,619]
N
08/07/09 Vasan
July 08, 2009
JAMA
Genetic Variants Associated with Cardiac Structure and Function: A Meta-analysis and Replication of Genome-wide Association Data
Aortic root size 12,612 European ancestry individuals 4,094 European ancestry individuals 5q23.2
17p13.3
12q14.3
12p12.2
1p21.2
15q24.1
CCDC100, PPIC
SMG6, SRR, TSR1, SGSM2
HMGA2
PDE3A
PALMD
LOXL1
rs17470137-A
rs10852932-T
rs4026608-C
rs10770612-G
rs7543130-A
rs893817-G
0.29
0.36
0.38
0.19
0.49
0.34
1 x 10-11
2 x 10-11
2 x 10-9
2 x 10-8
1 x 10-7
3 x 10-6
.03 [0.02-0.04] cm increase
.03 [0.02-0.04] cm increase
.03 [0.02-0.04] cm decrease
.03 [0.02-0.04] cm increase
.03 [0.02-0.04] cm increase
.02 [0.01-0.03] cm increase
Affymetrix & Illumina
[~2.5 million] (imputed)
N
08/07/09 " Cardiac structure and function 12,612 European ancestry individuals 4,094 European ancestry individuals 6q22.31
10q23.1
5q22.1
16q23.1
SLC35F1, C6orf204, PLN
GRID1
SLC25A46
WWOX
rs89107-G
rs7910620-G
rs17132261-T
rs2059238-A
0.50
0.01
0.02
0.22
1 x 10-9 (LV internal diastolic dimensions)
7 x 10-7 (LV wall thickness)
9 x 10-7 (LV wall thickness)
3 x 10-6 (LV wall thickness)
.03 [0.02-0.04] cm decrease
.17 [0.11-0.23] cm increase
.06 [0.04-0.08] cm increase
.02 [0.01-0.03] cm decrease
Affymetrix & Illumina
[~2.5 million] (imputed)
N
07/16/09 Bishop
July 05, 2009
Nat Genet
Genome-wide association study identifies three loci associated with melanoma risk
Melanoma 1,539 European ancestry cases, 3,917 European ancestry controls 2,312 European ancestry cases, 1,867 European ancestry controls 16q24.3
16q24.3
11q14.3
22q13.1
9p21.3
MC1R
MC1R
TYR
Intergenic
CDKN2A
rs258322-A
rs4785763-A
rs1393350-A
rs2284063-?
rs7023329-A
0.09
0.32
0.27
0.37
0.50
3 x 10-27
6 x 10-22
2 x 10-14
2 x 10-9
4 x 10-7
1.67 [1.52-1.83]
1.36 [1.28-1.45]
1.29 [1.21-1.38]
1.2 [1.14-1.28]
1.18 [1.10-1.25]
Illumina
[~317,000]
N
07/13/09 Falchi
July 05, 2009
Nat Genet
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi
Cutaneous nevi 1,524 European twins 4,107 European individuals 9p21.3
22q13.1
MTAP
PLA2G6
rs4636294-A
rs2284063-G
0.48
0.35
3 x 10-15
3 x 10-8
.2 [0.13-0.27] increase in log nevus count
.08 [-0.002-0.16] decrease in log nevus count
Illumina
[297,108]
N
07/12/09 Shete
July 05, 2009
Nat Genet
Genome-wide association study identifies five susceptibility loci for glioma
Glioma 1,878 cases, 3,670 controls 2,545 cases, 2,953 controls 8q24.21
5p15.33
9p21.3
5p15.33
20q13.33
8q24.21
11q23.3
CCDC26
TERT
CDKN2A, CDKN2B
TERT
RTEL1
CCDC26
PHLDB1
rs4295627-G
rs2736100-G
rs4977756-G
rs2853676-A
rs6010620-G
rs891835-G
rs498872-T
0.83
0.49
0.60
0.73
0.23
0.78
0.69
2 x 10-18
2 x 10-17
7 x 10-15
4 x 10-14
3 x 10-12
8 x 10-11
1 x 10-8
1.36 [1.29-1.43]
1.27 [1.19-1.37]
1.24 [1.19-1.30]
1.26 [1.20-1.32]
1.28 [1.21-1.35]
1.24 [1.17-1.30]
1.18 [1.13-1.24]
Illumina
[454,576]
N
07/12/09 Wrensch
July 05, 2009
Nat Genet
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility
Glioma (high-grade) 692 high-grade cases, 3,992 controls 176 high-grade cases, 174 controls 9p21.3
20q13.33
20q13.33
Intergenic
RTEL1
RTEL1
rs1412829-C
rs4809324-C
rs6010620-G
0.39
0.10
0.77
2 x 10-10
2 x 10-9
3 x 10-9
1.42 [1.27-1.58]
1.6 [1.37-1.87]
1.52 [1.32-1.75]
Illumina
[326,506]
N
07/24/09 Teichert
July 04, 2009
Hum Mol Genet
A genome-wide association study of acenocoumarol maintenance dosage
Acenocoumarol maintenance dosage 1,451 Caucasian individuals 287 Caucasian individuals 10q23.33
19p13.12
10q23.33
3q22.3
CYP2C18
CYP4F2
CYP2C19
CNTN4
rs12772169-?
rs2108622-?
rs12767583-?
rs10935268-?
NR
NR
NR
NR
8 x 10-12
3 x 10-10
3 x 10-7
8 x 10-7
NR
NR
NR
NR
Illumina
[~550,000]
N
07/12/09 Elliott
July 01, 2009
JAMA
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease
C-reactive protein 17,967 European and Indian Asian men and women 13,615 European and Indian Asian men and women 1q23.2
12q24.31
19q13.32
1q21.3
1p31.3
CRP
HNF1A
APOE, APOCI, APOCII
IL6R
LEPR
rs7553007-A
rs1183910-T
rs4420638-G
rs4537545-T
rs6700896-T
NR
NR
NR
NR
NR
8 x 10-44
1 x 10-30
5 x 10-27
2 x 10-14
3 x 10-14
20.7 [18.9-23.4] % decrease
13.8 [10.9-16.6] % decrease
21.8 [18.1-25.3] % decrease
11.5 [8.5-14.4] % decrease
14.8 [12.0-17.6] % decrease
Affymetrix, Illumina & Perlegen
[~1.4 million] (imputed)
N
07/24/09 Estrada
July 01, 2009
Hum Mol Genet
A genome-wide association study of northwestern Europeans involves the CNP signaling pathway in the etiology of human height variation
Height 10,074 European individuals 6,912 European individuals 2q37.1
22q13.1
5p13.3
11q14.1
22q13.1
DIS3L2, ALPP, NPPC
TNRC6B, ADSL
C5orf23, NPR3
TMEM126B, TMEM126A
SGSM3, MKL1
rs6717918-T
rs139909-T
rs10472828-C
rs10898392-T
rs5757949-T
0.78
0.68
0.56
NR
NR
3 x 10-9
2 x 10-7
3 x 10-7
3 x 10-6
4 x 10-6
.44 [0.20-0.68] cm increase
.25 [0.03-0.47] cm increase
.22 [0.04-0.40] cm increase
NR
NR
Affymetrix, Illumina & Perlegen
[2,228,850] (imputed)
N
07/13/09 International Schizophrenia Consortium
July 01, 2009
Nature
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
Schizophrenia 3,322 European descent cases, 3,587 European descent controls 4,692 European descent cases, 15,493 European descent controls 6p22.1
18q21.2
3q26.33
1p21.3
MHC
TCF4
FXR1
PTBP2
rs13194053-T
rs17594526-T
rs6782299-T
rs7544736-G
0.86
0.03
0.73
0.18
1 x 10-8
1 x 10-7
1 x 10-7
6 x 10-7
1.22
1.44
1.1
1.25
Affymetrix
[739,995]
N
07/10/09 Shi
July 01, 2009
Nature
Common variants on chromosome 6p22.1 are associated with schizophrenia
Schizophrenia 2,681 European ancestry cases, 2,653 European ancestry controls, 1,286 African American cases, 973 African American controls 5,327 European ancestry cases, 16,424 European ancestry controls 6p22.1
6p21.32
SLC17A1, SLC17A3, BTN3A2, BTN2A2, BTN3A1, HIST1H2AG, HIST1H2BJ, PRSS16, POM121L2, ZNF184
HLA-DQA1
rs13194053-T
rs9272219-G
0.82
0.72
1 x 10-8 (EA)
7 x 10-8 (EA)
1.28 [NR]
1.14 [NR]
Affymetrix
[up to 843,798]
N
07/10/09 Stefansson
July 01, 2009
Nature
Common variants conferring risk of schizophrenia
Schizophrenia 2,663 European cases, 13,498 European controls 10,282 European cases, 21,093 European controls 6p22.1
6p21.32
11q24.2
18q21.2
2p16.1
5q21.1
9q33.1
MHC, PRSS16
MHC, NOTCH4
NRGN
TCF4
VRK2
SLCO6A1
Intergenic
rs6932590-T
rs3131296-G
rs12807809-T
rs9960767-C
rs2312147-C
rs1502844-C
rs1572299-A
0.78
0.87
0.83
0.06
NR
NR
NR
1 x 10-12
2 x 10-10
2 x 10-9
4 x 10-9
3 x 10-7
1 x 10-6
4 x 10-6
1.16 [NR]
1.19 [NR]
1.15 [NR]
1.23 [NR]
1.09 [NR]
1.09 [NR]
1.08 [NR]
Illumina
[314,868]
N
07/24/09 Treutlein
July 01, 2009
Arch Gen Psychiatry
Genome-wide association study of alcohol dependence
Alcohol dependence 476 German cases, 1,358 German controls 1,024 German cases, 996 German controls 2q35
5q32
Xp22.2
14q24.2
4q26
6q25.1
PECR
PPP2R2B
Intergenic
Intergenic
CAST, ERAP1
ESR1
rs7590720-G
rs1864982-A
rs12388359-T
rs36563-A
rs13150562-G
rs6902771-C
0.29
0.13
0.11
0.15
0.68
0.51
1 x 10-8
3 x 10-6
4 x 10-6
5 x 10-6
7 x 10-6
8 x 10-6
1.35 [1.22-1.49]
1.36 [1.20-1.55]
1.61 [1.32-2.00]
1.33 [1.18-1.50]
1.27 [1.14-1.41]
1.24 [1.13-1.36]
Illumina
[524,396]
N
07/01/09 Thorleifsson
June 28, 2009
Nat Genet
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density
Kidney stones 1,507 Icelandic cases, 34,033 Icelandic controls 1,520 Icelandic cases, 4,726 Icelandic controls, 746 Dutch cases, 3,751 Dutch controls 21q22.13 CLDN14 rs219780-C 0.79 4 x 10-12 1.25 [1.17-1.33] Illumina
[303,120]
N
07/01/09 Heard-Costa
June 26, 2009
PLoS Genet
NRXN3 Is a Novel Locus for Waist Circumference: A Genome-Wide Association Study from the CHARGE Consortium
Waist circumference 31,373 Caucasian individuals 38,641 Caucasian individuals 16q12.2
14q31.1
18q21.32
12q13.13
5p14.3
6p12.2
11p15.4
FTO
NRXN3
MC4R
FAIM2, BCDIN3D
CDH12
PKHD1
OVCH2
rs1558902-?
rs10146997-G
rs489693-?
rs7138803-?
rs4701252-?
rs1555967-?
rs7932813-?
NR
NR
NR
NR
NR
NR
NR
5 x 10-19
5 x 10-8
4 x 10-7
8 x 10-7
2 x 10-6
3 x 10-6
5 x 10-6
NR
.65 [NR] cm increase
NR
NR
NR
NR
NR
Affymetrix & Illumina
[up to 512,349]
N
07/01/09 Lindgren
June 26, 2009
PLoS Genet
Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution
Adiposity 38,580 European-ancestry individuals Up to 102,064 European-ancestry individuals 6p12.3
8p23.1
1q41
1q42.3
TFAP2B
MSRA
LYPLAL1
TBCE
rs987237-G
rs7826222-G
rs2605100-G
rs6429082-C
0.164
0.183
0.692
0.46
2 x 10-11 (WC)
9 x 10-9 (WC)
3 x 10-8 (WHR in women)
3 x 10-7 (WC)
.04 [0.03-0.05] z-score unit increase
.04 [0.03-0.05] z-score unit increase
.04 [0.03-0.05] z-score unit increase
NR
Affymetrix & Illumina
[2,573,738] (imputed)
N
07/01/09 Cotsapas
June 24, 2009
Hum Mol Genet
Common BMI-associated variants confer risk of extreme obesity
Obesity (extreme) 775 Caucasian cases, 3,197 Caucasian controls NR 16q12.2
10p11.21
2p16.1
6p21.31
4q26
11p14.2
3p24.2
5q23.3
10q22.1
20p12.1
3p24.3
6p21.31
2q33.3
FTO
ZNF248
RTN4
ITPR3
TRAM1L1
MUC15
RARB
FBN2
PRF1
C20orf133
RAFTLIN
MLN
FLJ20309
rs9941349-T
rs7474896-T
rs6726292-G
rs999943-T
rs10433903-T
rs12295638-C
rs1435703-T
rs374748-G
rs10999409-T
rs6110577-C
rs12635698-C
rs2274459-A
rs7603514-A
0.43
0.14
0.73
0.72
0.66
0.10
0.06
0.11
0.45
0.16
0.15
0.17
0.20
6 x 10-12
9 x 10-7
1 x 10-6
1 x 10-6
3 x 10-6
4 x 10-6
4 x 10-6
4 x 10-6
5 x 10-6
5 x 10-6
5 x 10-6
6 x 10-6
8 x 10-6
1.48 [1.33-1.66]
1.46 [1.25-1.69]
1.39 [1.22-1.59]
1.37 [1.20-1.56]
1.33 [1.19-1.52]
1.49 [1.26-1.77]
1.66 [1.34-2.06]
1.47 [1.25-1.73]
1.3 [1.16-1.45]
1.4 [1.21-1.61]
1.41 [1.21-1.63]
1.38 [1.20-1.58]
1.36 [1.19-1.56]
Illumina
[457,251]
N
06/30/09 Bahlo
June 14, 2009
Nat Genet
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20
Multiple sclerosis 1,618 European ancestry cases, 3,413 European ancestry controls 2,256 European ancestry cases, 2,310 European ancestry controls 6p21.32
12q14.1
1p13.1
20q13.12
16p12.1
8q24.21
1p22.1
10p15.1
HLA-DRB1
METTL1, CYP27B1
CD58
CD40
NR
ASAP1, DDEF1
EVI5, RPL5
IL2RA
rs9271366-G
rs703842-A
rs1335532-A
rs6074022-G
rs8049603-T
rs6984045-C
rs6604026-G
rs2104286-G
0.15
0.67
0.87
0.25
0.20
0.02
0.28
0.73
7 x 10-184
5 x 10-11
1 x 10-7
1 x 10-7
1 x 10-6
2 x 10-6
3 x 10-6
7 x 10-6
2.78 [NR]
1.23 [NR]
1.28 [NR]
1.2 [NR]
1.19 [NR]
1.59 [NR]
1.17 [NR]
1.16 [NR]
Illumina
[302,098]
N
06/29/09 De Jager
June 14, 2009
Nat Genet
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
Multiple sclerosis 2,624 cases, 7,220 controls 2,215 cases, 2,116 controls 6p21.32
6p22.1
12p13.31
1p13.1
11q12.2
16q24.1
10p15.1
2q22.1
16p13.13
5p13.1
12q24.31
10q22.3
5p13.2
12p13.31
3q25.33
HLA-DRB1
HLA-B
TNFRSF1A
CD58
CD6
IRF8
IL2RA
CXCR4
CLEC16A
PTGER4
MPHOSPH9
ZMIZ1
IL7R
TNFRSF1A
IL12A
rs3135388-A
rs2523393-A
rs1800693-C
rs2300747-A
rs17824933-G
rs17445836-G
rs2104286-T
rs882300-C
rs11865121-C
rs6896969-C
rs1790100-G
rs1250540-G
rs6897932-C
rs4149584-T
rs4680534-C
0.22
0.59
0.45
0.88
0.25
0.81
0.76
0.61
0.69
0.62
0.24
0.35
0.75
0.022
0.37
4 x 10-225
1 x 10-17
2 x 10-11
3 x 10-10
4 x 10-9
4 x 10-9
9 x 10-8
1 x 10-7
2 x 10-7
2 x 10-7
7 x 10-7
2 x 10-6
2 x 10-6
5 x 10-6
6 x 10-6
2.75 [2.46-3.07]
1.28 [1.18-1.39]
1.2 [1.10-1.31]
1.3 [1.14-1.47]
1.18 [1.07-1.30]
1.25 [1.12-1.39]
1.15 [1.04-1.27]
1.19 [1.09-1.30]
1.15 [1.04-1.25]
1.1 [1.01-1.20]
1.11 [1.00-1.22]
1.12 [1.02-1.22]
1.12 [1.02-1.23]
1.58 [1.15-2.17]
1.12 [1.02-1.22]
Affymetrix & Illumina
[~2.56 million] (imputed)
N
06/26/09 Malarstig
June 12, 2009
Blood
Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study
Plasma homocysteine 387 individuals from 21 Spanish families 1,238 European individuals NS NS NS NS NS NS Illumina
[283,437]
N
06/19/09 Knauff
June 09, 2009
Hum Reprod
Genome-wide association study in premature ovarian failure patients suggests ADAMTS19 as a possible candidate gene
Premature ovarian failure 99 Caucasian cases, 235 Caucasian controls 60 Caucasian cases, 90 Caucasian controls NS NS NS NS NS NS Illumina
[309,158]
N
06/19/09 Zhai
June 08, 2009
J Med Genet
A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium
Osteoarthritis 1,804 Caucasian individuals 3,266 Caucasian individuals NS NS NS NS NS NS Illumina
[up to 535,188]
N
06/17/09 Gregersen
June 07, 2009
Nat Genet
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis
Rheumatoid arthritis 2,418 cases, 4,504 controls 2,604 cases, 2,882 controls 1p13.2
2p16.1
2q33.2
8p23.1
9q33.2
PTPN22
REL
CTLA4
BLK
TRAF1, C5
rs2476601-?
rs13017599-A
rs231735-T
rs2736340-A
rs881375-?
NR
0.34
0.51
0.24
NR
2 x 10-21
2 x 10-12
6 x 10-9
6 x 10-9
4 x 10-8
NR
1.21 [1.15-1.28]
1.17 [1.11-1.23]
1.19 [1.13-1.27]
NR
Illumina
[278,502]
N
06/17/09 Elmore
June 06, 2009
J Vasc Surg
Identification of a genetic variant associated with abdominal aortic aneurysms on chromosome 3p12.3 by genome wide association
Abdominal aortic aneurysm 123 cases, 112 controls 827 cases, 594 controls NS NS NS NS NS NS Affymetrix
[306,330] (pooled)
N
06/22/09 Kolz
June 05, 2009
PLoS Genet
Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations
Serum uric acid 12,328 European males, 15,813 European females NR 4p16.1
4p16.1
4q22.1
6p22.2
11q13.1
4q22.1
2p23.3
11q13.1
1q21.1
6p22.2
10q21.1
SLC2A9
SLC2A9
ABCG2
SLC17A1
SLC22A11
ABCG2
GCKR
SLC22A12
PDZK1
LRRC16A, SCGN
SLC16A9
rs734553-T
rs734553-T
rs2231142-T
rs1183201-A
rs17300741-A
rs2231142-T
rs780094-T
rs505802-T
rs12129861-A
rs742132-A
rs12356193-A
0.77
0.77
0.11
0.48
0.51
0.11
0.42
0.70
0.46
0.70
0.83
1 x 10-192 (women)
1 x 10-41 (men)
2 x 10-18 (men)
3 x 10-14
7 x 10-14
1 x 10-10 (women)
1 x 10-9
2 x 10-9
3 x 10-9
9 x 10-9
1 x 10-8
.4 [0.371-0.423] mg/dl increase
.22 [0.188-0.252] mg/dl increase
.22 [0.171-0.270] mg/dl increase
.06 [0.459-0.078] mg/dl decrease
.06 [0.046-0.078] mg/dl increase
.14 [0.096-0.181] mg/dl increase
.05 [0.035-0.068] mg/dl increase
.06 [0.038-0.074] mg/dl decrease
.06 [0.042-0.083] mg/dl decrease
.05 [0.036-0.072] mg/dl increase
.08 [0.051-0.105] mg/dl increase
Affymetrix and Illumina
[2,493,963] (imputed)
N
06/16/09 Smith
June 02, 2009
Mol Psychiatry
Genome-wide association study of bipolar disorder in European American and African American individuals
Bipolar disorder 1,001 Caucasian cases, 345 African American cases, 1,033 Caucasian controls, 670 African American controls 1,749 Caucasian family members, 1,263 Caucasian cases, 431 Caucasian controls 19q13.11 DPY19L3 rs2111504-T 0.23 2 x 10-6 (AA) 1.74 [NR] Affymetrix
[702,044]
N
06/15/09 Daly
May 31, 2009
Nat Genet
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin
Drug-induced liver injury (flucloxacillin) 58 cases, 282 controls NR 6p21.33
3q27.3
3q11.2
12q12
9p21.2
15q26.2
HCP5, HLA-B
ST6GAL1
OR5H2
ALG10B
C9org82
MCTP2
rs2395029-?
rs10937275-?
rs1497546-?
rs6582630-?
rs10812428-?
rs4984390-?
0.05
0.09
0.02
0.38
0.31
0.41
9 x 10-33
1 x 10-8 (B*5701 positive)
2 x 10-7
1 x 10-6
1 x 10-6
4 x 10-6
45 [19.4-105]
4.1 [NR]
6.57 [NR]
2.82 [NR]
2.85 [NR]
3.27 [NR]
Illumina
[866,399]
N
06/14/09 Kanetsky
May 31, 2009
Nat Genet
Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer
Testicular cancer 277 white, non-Hispanic cases, 919 non-Hispanic controls 371 non-Hispanic cases + 204 sets of parents, 860 non-Hispanic controls 12q21.32 KITLG rs4474514-A NR 6 x 10-15 3.07 [2.29-4.13] Affymetrix
[611,254]
N
06/14/09 Rapley
May 31, 2009
Nat Genet
A genome-wide association study of testicular germ cell tumor
Testicular germ cell tumor 730 cases, 1,435 controls 571 cases, 1,806 controls 12q21.32
12q21.32
6p21.31
5q31.3
4q24
1q24.1
KITLG
KITLG
BAK1
SPRY4
Intergenic
Intergenic
rs995030-G
rs1508595-G
rs210138-G
rs4624820-A
rs4699052-C
rs4657482-A
0.80
0.83
0.20
0.54
0.61
0.33
1 x 10-31
3 x 10-30
1 x 10-13
3 x 10-13
2 x 10-7
2 x 10-6
2.55 [2.05-3.19]
2.69 [2.10-3.44]
1.5 [1.28-1.75]
1.37 [1.19-1.58]
1.21 [1.05-1.39]
1.14 [0.99-1.31]
Illumina
[307,666]
N
06/14/09 Ng
May 29, 2009
J Hum Genet
A genome-wide association study identifies ITGA9 conferring risk of nasopharyngeal carcinoma.
Nasopharyngeal carcinoma 111 Chinese cases, 260 Chinese controls 168 Chinese cases, 252 Chinese controls 3p22.2 ITGA9 rs189897-A 0.09 7 x 10-8 3.18 [1.94-5.21] Illumina
[533,048]
N
06/16/09 Aston
May 28, 2009
J Androl
Genome-wide Study of Single Nucleotide Polymorphisms Associated with Azoospermia and Severe Oligozoospermia
Male infertility 52 oligozoospermic Caucasian males, 40 non-obstructive azoospermic Caucasian males, 80 Caucasian male controls NR 12p12.2
20q13.2
3q11.2
2q22.1
12p13.32
PDE3A
SALL4
ARL6
NXPH2
EFCAB4B
rs10841496-?
rs6068020-?
rs9814870-?
rs1399645-?
rs10848911-?
0.58
0.49
0.15
0.02
0.11
5 x 10-7 (azoospermia)
5 x 10-7 (azoospermia)
7 x 10-7 (oligozoospermia)
9 x 10-7 (azoospermia)
4 x 10-6 (azoospermia)
NR
NR
NR
NR
NR
Illumina
[314,776]
N
06/10/09 Ma
May 28, 2009
Ann Hum Genet
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1
Autism 1,390 family members 2,390 family members 5p14.1 Intergenic rs10038113-T 0.59 3 x 10-6 1.33 [1.11-1.43] Illumina
[775,311]
N
06/14/09 Jallow
May 24, 2009
Nat Genet
Genome-wide and fine-resolution association anaylsis of malaria in West Africa
Malaria 958 Gambian cases, 1,382 Gambian controls, all children 1,087 Gambian cases, 2,376 Gambian controls, all children 11p15.4
17p13.1
7p12.2
HBB
SCO1
DDC
rs11036238-?
rs6503319-T
rs1451375-?
0.14
0.45
0.78
4 x 10-11
7 x 10-7
6 x 10-6
1.59 [1.39-1.82]
1.21 [1.12-1.31]
1.33 [1.18-1.52]
Affymetrix
[402,814]
N
06/04/09 Norris
May 21, 2009
Obesity
Genome-wide Association Study and Follow-up Analysis of Adiposity Traits in Hispanic Americans: The IRAS Family Study
Obesity-related traits 229 Hispanic family members 961 Hispanic family members NS NS NS NS NS NS Illumina
[309,200]
N
06/21/09 Hirschfield
May 20, 2009
N Engl J Med
Primary Biliary Cirrhosis Associated with HLA, IL12A, and IL12RB2 Variants
Primary biliary cirrhosis 505 cases, 1,507 controls up to 526 cases, 1,206 controls 3q26.1
1p31.3
6p21.32
6p21.3
7q32.1
3q26.1
17q12
IL12A
IL12RB2
c6orf10, BTNL2, HLA-DQB1
c6orf10, BTNL2, HLA-DQB1
IRFS-TNPO3
ARF7
IKZF3
rs6441286-G
rs3790567-A
4-SNP haplotype-1
4-SNP haplotype-2
rs10488631-G
rs4679904-G
rs907092-A
0.39
0.24
0.01
0.20
NR
0.72
0.45
2 x 10-14
3 x 10-11
1 x 10-10 (AACA)
7 x 10-10 (CACA)
2 x 10-7
1 x 10-6
8 x 10-6
1.54 [1.38-1.72]
1.51 [1.33-1.70]
NR
NR
1.52 [1.30-1.78]
1.38 [1.21-1.57]
1.29 [1.15-1.44]
Illumina
[305,724]
N
06/14/09 Arnett
May 19, 2009
BMC Med Genet
Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: The HyperGEN Study
Left ventricular mass 101 Caucasian cases, 101 Caucasian controls 704 Caucasian siblings, 1,467 African American siblings 5p13.2
7q21.11
RAI14
CD36
rs409045-?
rs10499859-?
0.38
0.45
8 x 10-7 (Caucasian)
3 x 10-6 (Caucasian)
0 [NR] (LVMI)
.09 [NR] (LVMI)
Affymetrix
[96,258]
N
06/04/09 Landers
May 18, 2009
Proc Natl Acad Sci USA
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis 1,821 cases, 2,258 controls 538 cases, 556 controls 1q24.2
7q36.1
18q12.1
2p16.1
5q23.2
1q24.2
6p22.3
2q24.3
3p26.3
17q24.3
1p34.2
1q42.2
2p22.1
5q23.1
21q21.1
2q24.2
KIFAP3
ZNF746
B4GALT6
EFEMP1
CSNK1G3
SELL
ATXN1
SCN7A
CNTN4
SLC39A11
NT5C1A
DISC1
NR
SEMA6A
NR
RBMS1
rs1541160-C
rs855913-A
rs10438933-G
rs7577894-T
rs11241713-T
rs3177980-G
rs697739-A
rs13015447-T
rs2619566-G
rs8066857-C
rs873917-T
rs16856202-A
rs3099950-?
rs7702057-C
rs2823962-?
rs10192369-T
NR
NR
0.12
0.39
NR
NR
NR
0.34
NR
NR
0.29
0.04
NR
0.03
NR
0.47
2 x 10-8 (survival)
4 x 10-8 (survival)
1 x 10-6 (susceptibilty)
1 x 10-6 (site of onset)
3 x 10-6 (survival)
4 x 10-6 (survival)
4 x 10-6 (age of onset)
7 x 10-6 (site of onset)
7 x 10-6 (age of onset)
8 x 10-6 (site of onset)
8 x 10-6 (susceptibilty)
8 x 10-6 (susceptibilty)
8 x 10-6 (survival)
8 x 10-6 (site of onset)
9 x 10-6 (survival)
9 x 10-6 (susceptibilty)
.58 [0.38-0.78] years older
1.08 [0.70-1.46] years older
1.3 [NR]
1.41 [NR]
.79 [0.46-1.12] years older
.51 [0.46-0.56] years older
2.04 [1.18-2.90] years younger
1.41 [NR]
3.03 [1.71-4.35] years younger
1.48 [NR]
1.16 [NR]
2 [NR]
NR
2.05 [NR]
NR
1.17 [NR]
Illumina
[288,357]
N
06/04/09 He
May 17, 2009
Nat Genet
Genome-wide association studies identify loci associated with age at menarche and age at natural menopause
Menarche and menopause (age at onset) 17,438 Caucasian women NR 20p12.3
19q13.42
5q35.2
6q21
9q31.2
6p24.2
TRMT6, MCM8
BRSK1
UIMC1
LIN28B
Intergenic
GCM2, SYCP2L
rs16991615-A
rs1172822-T
rs365132-T
rs314277-A
rs7861820-C
rs2153157-T
0.06
0.37
0.49
0.14
0.48
0.49
1 x 10-21 (age at natural menopause)
2 x 10-19 (age at natural menopause)
8 x 10-14 (age at natural menopause)
3 x 10-13 (age at menarche)
3 x 10-9 (age at menarche)
5 x 10-8 (age at natural menopause)
1.07 [0.85-1.29] years older
.49 [0.38-0.60] years younger
.39 [0.29-0.49] years older
.16 [0.12-0.20] years older
.09 [0.06-0.12] years younger
.29 [0.19-0.39] years older
Illumina
[317,759]
N
06/01/09 Ong
May 17, 2009
Nat Genet
Genetic variation in LIN28B is associated with the timing of puberty
Menarche (age at onset) 4,714 women 16,373 women 6q21 LIN28B rs314276-C 0.33 4 x 10-16 .14 [0.11-0.17] years younger Affymetrix
[up to 390,631]
N
05/28/09 Perry
May 17, 2009
Nat Genet
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche
Menarche (age at onset) 17,510 women NR 9q31.2
6q21
TMEM38B, SLC44A1, FKTN, FSD1L, TAL2, ZNF462
LIN28B
rs2090409-A
rs7759938-C
0.31
0.33
2 x 10-9
7 x 10-9
.1 [0.06-0.14] years younger
.09 [0.05-0.13] years older
Affymetrix & Illumina
[~2.5 million] (imputed)
N
06/01/09 Perlis
May 15, 2009
Am J Psychiatry
A Genomewide Association Study of Response to Lithium for Prevention of Recurrence in Bipolar Disorder
Response to lithium treatment in bipolar disorder 458 lithium-treated subjects, 719 non-lithium treated subjects 359 subjects NS NS NS NS NS NS Affymetrix
[~1.4 million] (imputed)
N
05/28/09 Stolk
May 15, 2009
Nat Genet
Loci at chromosomes 13, 19 and 20 influence age at natural menopause.
Menopause (age at onset) 2,979 women 2,560 women 19q13.42
20p12.3
13q34
9q21.31
16q24.2
11q25
8p12
7q22.3
6p21.32
3q26.2
20p12.3
2q23.3
14q32.31
BRSK1, TMEM224, SUV420H2
MCM8
LOC121793, ARHGEF7
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
rs1172822-T
rs236114-A
rs7333181-A
rs2151145-?
rs4843747-?
rs4397868-?
rs6468442-?
rs17153527-?
rs494620-?
rs4955755-?
rs2326679-?
rs11889862-?
rs4906172-?
0.39
0.21
0.12
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
6 x 10-11
1 x 10-10
3 x 10-8
1 x 10-7
2 x 10-7
3 x 10-7
3 x 10-7
4 x 10-7
5 x 10-7
7 x 10-7
2 x 10-6
2 x 10-6
3 x 10-6
.39 [0.27-0.51] years younger
.5 [0.34-0.65] years older
.52 [0.34-0.70] years older
.41 [0.26-0.56] years older
.39 [0.24-0.54] years older
.4 [0.25-0.55] years younger
.39 [0.24-0.54] years younger
.51 [0.31-0.71] years older
.3 [0.18-0.42] years older
.34 [0.21-0.47] years older
.32 [0.19-0.45] years older
.36 [0.21-0.51] years younger
.36 [0.21-0.51] years younger
Illumina
[315,418]
N
06/01/09 Sulem
May 15, 2009
Nat Genet
Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche
Menarche (age at onset) 15,297 Icelandic women 10,040 Icelandic women 6q21 LIN28B, HACE1, E3 ubiquitin protein ligase 1, BVES, POPDC3 rs314280-T 0.48 2 x 10-14 1.2 [0.9-1.5] months older Illumina
[304,226]
N
05/26/09 Fei
May 14, 2009
Arthritis Res Ther
Identification of novel genetic susceptibility loci for Behcet's disease using a genome-wide association study
Behcet's disease 152 cases, 170 controls NR NS NS NS NS NS NS Affymetrix
[~500,000] (pooled)
N
06/01/09 Barrett
May 10, 2009
Nat Genet
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes
Type 1 diabetes 7,514 cases, 9,045 controls 4,267 cases, 4,670 controls, 4,342 trios 6p21.32
1p13.2
11p15.5
10q23.31
12q24.12
12q13.2
16p13.13
22q12.2
2q33.2
16q23.1
18p11.21
10p15.1
16p11.2
6q22.32
4q27
17q12
14q24.1
9p24.2
20p13
12p13.31
19q13.32
4p15.2
17q21.2
1q32.1
21q22.3
14q32.2
7p15.2
2q24.2
Xq28
7p12.1
6q15
15q25.1
10p15.1
16p12.3
22q13.1
1p31.3
17p13.1
2p25.1
MHC
PTPN22
INS
C10orf59
SH2B3
ERBB3
CLEC16A
Intergenic
CTLA4
Intergenic
PTPN2
IL2RA
IL27
C6orf173
IL2
ORMDL3
Intergenic
GLIS3
Intergenic
CD69
Intergenic
Intergenic
Intergenic
IL10
UBASH3A
Intergenic
Intergenic
IFIH1
Intergenic
COBL
BACH2
CTSH
PRKCQ
Intergenic
C1QTNF6
PGM1
Intergenic
Intergenic
rs9268645-?
rs2476601-?
rs7111341-?
rs10509540-?
rs3184504-?
rs2292239-?
rs12708716-?
rs5753037-T
rs3087243-?
rs7202877-G
rs1893217-?
rs12251307-?
rs4788084-G
rs9388489-G
rs4505848-?
rs2290400-?
rs1465788-?
rs7020673-?
rs2281808-?
rs4763879-A
rs425105-?
rs10517086-A
rs7221109-?
rs3024505-?
rs11203203-?
rs4900384-G
rs7804356-?
rs1990760-?
rs2664170-G
rs4948088-?
rs11755527-?
rs3825932-?
rs11258747-?
rs12444268-A
rs229541-?
rs2269241-G
rs16956936-?
rs1534422-G
NR
NR
NR
0.71
NR
NR
NR
0.39
NR
0.10
NR
NR
0.42
0.45
NR
0.50
0.71
0.50
0.64
0.37
0.84
0.30
0.65
0.83
NR
0.29
0.76
NR
0.32
0.95
NR
NR
NR
0.30
NR
0.19
0.86
0.46
1 x 10-100
9 x 10-85
4 x 10-48
1 x 10-28
3 x 10-27
2 x 10-25
2 x 10-16
3 x 10-16
1 x 10-15
3 x 10-15
4 x 10-15
1 x 10-13
3 x 10-13
4 x 10-13
5 x 10-13
6 x 10-13
2 x 10-12
5 x 10-12
1 x 10-11
2 x 10-11
3 x 10-11
5 x 10-10
1 x 10-9
2 x 10-9
2 x 10-9
4 x 10-9
5 x 10-9
7 x 10-9
8 x 10-9
4 x 10-8
5 x 10-8
8 x 10-8
1 x 10-7
2 x 10-7
2 x 10-7
4 x 10-7
5 x 10-7
2 x 10-6
NR
NR
NR
1.33 [1.25-1.43]
NR
NR
NR
1.1 [1.04-1.17]
NR
1.28 [1.17-1.41]
NR
NR
1.09 [1.02-1.16]
1.17 [1.10-1.24]
NR
1.15 [1.08-1.22]
1.16 [1.10-1.25]
1.14 [1.08-1.20]
1.11 [1.05-1.19]
1.09 [1.02-1.16]
1.16 [1.08-1.27]
1.09 [1.02-1.17]
1.05 [0.99-1.12]
1.19 [1.10-1.30]
NR
1.09 [1.02-1.16]
1.14 [1.06-1.22]
NR
1.16 [1.07-1.24]
1.3 [1.11-1.49]
NR
NR
NR
1.1 [1.03-1.17]
NR
1.1 [1.02-1.18]
1.09 [1.00-1.19]
1.08 [1.02-1.15]
Affymetrix & Illumina
[841,622] (imputed)
N
05/27/09 Kottgen
May 10, 2009
Nat Genet
Multiple loci associated with indices of renal function and chronic kidney disease
Renal function and chronic kidney disease 19,877 individuals, up to 2,388 cases 21,466 individuals, up to 1,932 cases 16p12.3
15q21.1
4q21.1
16p12.3
UMOD
SPATA5L1, GATM
SHROOM3
UMOD
rs12917707-T
rs2467853-G
rs17319721-A
rs12917707-G
0.18
0.38
0.44
0.18
5 x 10-16 (eGFRcrea)
6 x 10-14 (eGFRcrea)
1 x 10-12 (eGFRcrea)
2 x 10-12 (CKD)
.02 [0.014-0.022] ml/min/1.73m2 increase
.01 [0.009-0.017] ml/min/1.73m2 decrease
.01 [0.008-0.016] ml/min/1.73m2 decrease
1.25 [1.18-1.33]
Affymetrix & Illumina
[~2.5 million] (imputed)
N
05/19/09 Levy
May 10, 2009
Nat Genet
Genome-wide association study of blood pressure and hypertension
Diastolic blood pressure 29,136 individuals 34,433 individuals 12q24.12
15q24.1
12q21.33
3p22.1
10p12.33
12q24.21
11p15.1
SH2B3
CSK, ULK3
ATP2B1
ULK4
CACNB2
TBX3, TBX5
PLEKHA7
rs3184504-T
rs6495122-A
rs2681472-A
rs9815354-A
rs11014166-A
rs2384550-A
rs11024074-T
0.48
0.42
0.83
0.17
0.66
0.35
0.72
3 x 10-14
2 x 10-10
1 x 10-9
3 x 10-9
1 x 10-8
4 x 10-8
1 x 10-6
.48 [0.36-0.60] mm Hg increase
.4 [0.28-0.52] mm Hg increase
.5 [0.34-0.66] mm Hg increase
.49 [0.33-0.65] mm Hg increase
.37 [0.25-0.49] mm Hg increase
.35 [0.23-0.47] mm Hg decrease
.33 [0.19-0.47] mm Hg decrease
Affymetrix & Illumina
[2,533,153](imputed)
N
05/19/09 " Hypertension 29,136 individuals 34,433 individuals 12q21.33
10p12.33
20q13.32
8p23.1
ATP2B1
CACNB2
ZNF831, EDN3
MSRA
rs2681472-A
rs11014166-A
rs16982520-A
rs11775334-A
0.83
0.66
0.88
0.32
2 x 10-11
6 x 10-8
2 x 10-7
4 x 10-6
.15 [0.11-0.19] increase in log odds
.09 [0.05-0.13] increase in log odds
.13 [0.09-0.17] decrease in log odds
.08 [0.04-0.12] increase in log odds
Affymetrix & Illumina
[2,533,153](imputed)
N
05/19/09 " Systolic blood pressure 29,136 individuals 34,433 individuals 12q21.33
10q24.32
11p15.1
12q24.12
3q26.2
10p12.33
1p36.22
ATP2B1
CYP17A1
PLEKHA7
SH2B3
MDS1
CACNB2
CASZ1
rs2681492-T
rs1004467-A
rs381815-T
rs3184504-T
rs448378-A
rs11014166-A
rs12046278-T
0.80
0.90
0.26
0.48
0.52
0.66
0.64
4 x 10-11
1 x 10-10
2 x 10-9
5 x 10-9
1 x 10-7
7 x 10-7
5 x 10-6
.85 [0.60-1.10] mm Hg increase
1.05 [0.74-1.36] mm Hg increase
.65 [0.43-0.87] mm Hg increase
.58 [0.38-0.78] mm Hg increase
.51 [0.31-0.71] mm Hg decrease
.5 [0.30-0.70] mm Hg increase
.53 [0.29-0.77] mm Hg decrease
Affymetrix & Illumina
[2,533,153](imputed)
N
05/19/09 Newton-Cheh
May 10, 2009
Nat Genet
Genome-wide association study identifies eight loci associated with blood pressure
Diastolic blood pressure 34,433 individuals Up to 100,347 white individuals, up to 12,889 Indian Asian individuals 15q24.1
4q21.21
12q24.12
10q21.2
17q21.32
3q26.2
CYP1A1, CYP1A2, CSK, LMAN1L, CPLX3, ARID3B
FGF5, PRDM8, c4orf22
ATXN2, SH2B3
c10orf107, TMEM26, RTKN2, RHOBTB1, ARID5B
ZNF652, PHB
MDS1
rs1378942-C
rs16998073-T
rs653178-T
rs1530440-T
rs16948048-G
rs1918974-T
0.36
0.21
0.53
0.19
0.39
0.54
1 x 10-23
1 x 10-21
3 x 10-18
1 x 10-9
5 x 10-9
8 x 10-8
.43 [0.35-0.51] mm Hg increase
.5 [0.40-0.60] mm Hg increase
.46 [0.36-0.56] mm Hg decrease
.39 [0.27-0.51] mm Hg decrease
.31 [0.21-0.41] mm Hg increase
.27 [0.17-0.37] mm Hg decrease
Affymetrix & Illumina
[2,497,993] (imputed)
N
05/19/09 " Systolic blood pressure 34,433 individuals Up to 100,347 white individuals, up to 12,889 Indian Asian individuals 10q24.32
1p36.22
17q21.31
CYP17A1, AS3MT, CNNM2, NT5C2
MTHFR, NPPA, CLCN6, NPPB, AGTRAP
PLCD3, ACBD4, HEXIM1, HEXIM2
rs11191548-T
rs17367504-G
rs12946454-T
0.91
0.14
0.28
7 x 10-24
2 x 10-13
1 x 10-8
1.16 [0.92-1.40] mm Hg increase
.85 [0.63-1.07] mm Hg decrease
.57 [0.37-0.77] mm Hg increase
Affymetrix & Illumina
[2,497,993] (imputed)
N
05/21/09 Rich
May 09, 2009
Diabetologia
A genome-wide association scan for acute insulin response to glucose in Hispanic-Americans: the Insulin Resistance Atherosclerosis Family Study (IRAS FS).
Insulin response 229 family members 961 family members NS NS NS NS NS NS Illumina
[309,200]
N
05/20/09 Himes
May 07, 2009
Am J Hum Genet
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene
Asthma 422 cases, 1,533 controls 3,750 white cases, 13,365 white controls, 592 white trios, 1,903 black cases, 2,432 black controls, 929 black family members 5q12.1 PDE4D rs1588265-C 0.29 3 x 10-8 1.18 [1.08-1.30] Illumina
[518,230]
N
05/21/09 Yang
May 07, 2009
PLoS ONE
Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan
Hypertension (young onset) 175 Han Chinese cases, 175 Han Chinese controls 833 Han Chinese cases, 833 Han Chinese controls 2p22.3 LOC344371, MYADML, FAM98A, RASGRP3 4-SNP-haplotype NR 3 x 10-10 NR Affymetrix
[91,713]
N
05/19/09 Sanna
May 06, 2009
Hum Mol Genet
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia
Bilirubin levels 4,300 individuals 2,692 individuals 2q37.1
12p12.2
Xq28
UGT1A1
SLC01B3
G6PD
rs887829-T
rs2117032-C
rs766420-G
0.30
0.47
0.18
1 x 10-69
3 x 10-14
9 x 10-9
.57 [0.50-0.63] SD decrease
.13 [0.08-0.18] SD increase
.18 [0.12-0.24] SD decrease
Affymetrix
[362,129]
N
05/14/09 Scott
May 05, 2009
Proc Natl Acad Sci USA
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry
Bipolar disorder 3,683 cases, 14,507 controls NR 5q15
1p32.1
3p21.1
11q13.1
19p13.3
2p12
2q11.2
4q12
3q26.1
8p12
9q34.13
15q23
17q21.33
MCTP1
NF1A
ITIH1, NEK4
NR
NR
CTNNA2
Intergenic
KIT
NR
NR
NR
NR
NR
rs17418283-C
rs472913-C
rs1042779-A
rs2242663-T
rs7250872-T
rs13409348-G
rs6733011-G
rs2537859-T
rs7427021-G
rs6990255-T
rs2905072-A
rs6494849-A
rs1035050-T
0.28
0.50
0.63
0.25
0.69
0.24
0.46
0.60
0.56
0.95
0.77
0.12
0.40
1 x 10-7
2 x 10-7
2 x 10-7
1 x 10-6
2 x 10-6
3 x 10-6
3 x 10-6
4 x 10-6
5 x 10-6
6 x 10-6
6 x 10-6
7 x 10-6
9 x 10-6
1.21 [1.13-1.30]
1.18 [1.11-1.25]
1.19 [1.11-1.27]
1.2 [1.11-1.29]
1.21 [1.12-1.31]
1.2 [1.11-1.29]
1.17 [1.10-1.25]
1.16 [1.09-1.24]
1.16 [1.09-1.24]
1.33 [1.18-1.51]
1.21 [1.11-1.32]
1.23 [1.13-1.35]
1.17 [1.09-1.25]
Affymetrix and Illumina
[2,366,197] (imputed)
N
05/12/09 Johnson
May 04, 2009
Hum Mol Genet
Genome-wide association meta-analysis for total serum bilirubin levels
Serum bilirubin levels 9,264 individuals NR 2q37.1
12p12.1
11p15.4
2p11.2
6p22.1
4q28.1
7q21.11
13q34
UGT1A1
SLCO1B1,LST-3TM12,SLCO1A2
SLC22A18
KRCC1
HIST1H2BC
Intergenic
SEMA3C
ARHGEF7
rs6742078-T
rs4149056-C
rs16928809-A
rs12714207-T
rs12206204-T
rs1986655-A
rs4236644-A
rs4773330-A
0.32
0.15
0.09
0.03
0.02
0.17
0.26
0.12
5 x 10-324
7 x 10-13
1 x 10-7
5 x 10-7
8 x 10-7
2 x 10-6
2 x 10-6
8 x 10-6
.23 [0.21-0.25] umol/l increase in log(tbil)
.05 [0.03-0.07] umol/l increase in log(tbil)
.06 [0.04-0.08] umol/l increase in log(tbil)
.03 [0.01-0.05] umol/l decrease in log(tbil)
.18 [0.10-0.26] umol/l increase in log(tbil)
.02 [0.00-0.04] umol/l decrease in log(tbil)
.02 [0.00-0.04] umol/l decrease in log(tbil)
.04 [0.02-0.06] umol/l decrease in log(tbil)
Affymetrix & Illumina
[2,555,103] (imputed)
N
05/07/09 Capasso
May 03, 2009
Nat Genet
Common variants in BARD1 influence susceptibility to high-risk neuroblastoma
Neuroblastoma (high-risk) 397 cases, 2,043 controls 189 cases, 1,178 controls 2q35 BARD1 rs6435862-G 0.29 9 x 10-18 1.68 [1.49-1.90] Illumina
[462,866]
N
05/07/09 Hallmayer
May 03, 2009
Nat Genet
Narcolepsy is strongly associated with the T-cell receptor alpha locus
Narcolepsy 807 Caucasian cases, 1,074 Caucasian controls 363 Caucasian cases, 355 Caucasian controls, 561 Asian cases, 605 Asian controls, 133 African American cases, 144 African American controls 14q11.2 TRA-alpha, TRAJ10 rs1154155-C 0.14 3 x 10-22 1.69 [1.52-1.88] Affymetrix
[549,596]
N
05/07/09 Takeuchi
April 29, 2009
Diabetes
Confirmation of multiple risk loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population
Type 2 diabetes 519 Japanese cases, 503 Japanese controls 5,629 Japanese cases, 7,370 Japanese controls 9p21.3
11p15.5
6p22.3
8q24.11
10q22.33
10q25.2
3q27.2
CDKN2A, CDKN2B
KCNQ1
CDKAL1
SLC30A8
HHEX
TCF7L2
IGF2BP2
rs2383208-A
rs2237892-C
rs4712523-G
rs13266634-C
rs1111875-C
rs7903146-T
rs4402960-T
0.55
0.59
0.41
0.57
0.28
0.04
0.31
2 x 10-29
1 x 10-26
7 x 10-20
2 x 10-14
7 x 10-12
8 x 10-12
1 x 10-6
1.34 [1.27-1.41]
1.33 [1.27-1.41]
1.27 [1.21-1.33]
1.22 [1.16-1.28]
1.21 [1.15-1.28]
1.54 [1.36-1.74]
1.14 [1.08-1.21]
Illumina
[482,625]
N
05/11/09 Wang
April 28, 2009
Nature
Common genetic variants on 5p14.1 associate with autism spectrum disorders
Autism 3,101 family members, 1,204 cases, 6,491 controls 1,390 family members, 108 cases, 540 controls 5p14.1 CDH10,CDH9 rs4307059-T 0.61 2 x 10-10 1.19 [NR] Illumina
[474,019]
N
05/05/09 Cho
April 26, 2009
Nat Genet
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits
Biomedical quantitative traits 8,842 Korean individuals 7,861 Korean individuals 12q24.13
7q31.31
6q22.31
1q32.2
12q21.33
16q12.2
7q31.31
12q21.33
C12orf51
FAM3C
LOC644502
CD46, LOC148696
ATP2B1
FTO
FAM3C
ATP2B1
rs2074356-T
rs7776725-C
rs12110693-A
rs12731740-T
rs17249754-A
rs9939609-A
rs7776725-C
rs17249754-A
0.15
0.13
0.49
0.10
0.37
0.13
0.13
0.37
8 x 10-12 (waist-hip ratio)
1 x 10-11 (BD-RT)
2 x 10-9 (pulse rate)
3 x10-9 (pulse rate)
1 x 10-7 (SBP)
2 x 10-7 (BMI)
2 x 10-6 (BD-TT)
3 x10-6 (DBP)
.01 [0.004-0.008] decrease
NR
.66 [0.45-0.87] beats per minute increase
1.09 [0.72-1.44] beats per minute increase
1.06 [0.67-1.45] mm Hg decrease
.24 [0.14-0.32] kg/m2 increase
NR
.63 [0.37-0.89] mm Hg decrease
Affymetrix
[2,156,535] (imputed)
N
05/05/09 " Height 8,842 Korean individuals 7,861 Korean individuals 3q23
8q12.1
2p16.1
6p21.31
1p12
ZBTB38
PLAG1
EFEMP1
HMGA1
Intergenic
rs10513137-A
rs13273123-G
rs3791675-G
rs6918981-G
rs17038182-C
0.26
0.07
0.22
0.21
0.42
6 x10-12
1 x10-9
2 x10-9
3 x10-8
5 x10-7
.46 [0.33-0.59] cm increase
.71 [0.48-0.94] cm decrease
.42 [0.28-0.56] cm increase
.4 [0.26-0.54] cm increase
.3 [0.18-0.42] cm decrease
Affymetrix
[2,156,535] (imputed)
N
04/23/09 Ikram
April 15, 2009
N Engl J Med
Genomewide Association Studies of Stroke
Stroke 19,602 Caucasian individuals 3,004 African American individuals, 652 Caucasian cases, 3,613 Caucasian controls 12p13.33 NINJ2 rs12425791-A 0.19 1 x 10-9 (ischemic stroke) 1.29 [1.19-1.41] Affymetrix & Illumina
[2,194,468]
N
04/22/09 Poduslo
April 14, 2009
Am J Med Genet B Neuropsychiatr Genet
A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysis
Aging 89 cases, 227 controls NR 2q22.1 LRP1B rs12474609-? NR 6 x 10-9 NR Affymetrix
[469,218]
N
05/05/09 Hiura
April 10, 2009
Circ J
Identification of Genetic Markers Associated With High-Density Lipoprotein-Cholesterol by Genome-Wide Screening in a Japanese Population
LDL cholesterol 900 Japanese individuals 1,810 Japanese individuals 16q13 CETP rs3764261-A 0.20 3 x 10-12 6.2 mg/dl increase Illumina
[368,274]
N
04/22/09 Mangino
April 08, 2009
J Med Genet
A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length
Telomere length 1,625 women 1,165 individuals 18q12.2 BRUNOL4, VPS34 rs2162440-G NR 3 x 10-6 106 [62.88-149.12] base pairs shorter Illumina
[~314,075]
N
04/14/09 Esparza-Gordillo
April 06, 2009
Nat Genet
A common variant on chromosome 11q13 is associated with atopic dermatitis
Atopic dermatitis 939 cases, 975 controls, 1,097 family members 2,637 cases, 3,957 controls 11q13.5 C11orf30 rs7927894-A 0.36 8 x 10-10 1.22 [1.15-1.30] Affymetrix
[342,303]
N
04/16/09 Kamatani
April 06, 2009
Nat Genet
A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians
Hepatitis B 179 Japanese cases, 934 Japanese controls 1,599 Japanese cases, 2,821 Japanese controls, 308 Thai cases, 546 Thai controls 6p21.32 HLA-DPB1 rs9277535-G 0.56 6 x 10-39 1.75 [1.61-1.92] Illumina
[499,544]
N
05/11/09 Yamada
April 05, 2009
Atherosclerosis
Identification of CELSR1 as a susceptibility gene for ischemic stroke in Japanese individuals by a genome-wide association study
Ischemic stroke 131 cases, 135 controls 776 cases, 5,205 controls NS NS NS NS NS NS Affymetrix
[~520,000]
N
04/22/09 Soranzo
April 03, 2009
PLoS Genet
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size
Height 12,611 individuals 7,187 individuals 12q14.3
20q11.22
3q23
6p22.1
7p15.1
6q24.1
6p21.31
13q14.3
7p22.2
4p15.32
7q21.2
4q21.21
15q25.2
6p21.33
1p36.11
14q24.3
5p13.3
9p13.3
4q31.22
8q12.1
HMGA2
UQCC
ZBTB38
HIST1H1D
JAZF1
GPR126
HMGA1,C6orf106
DLEU7
GNA12
LCORL
CDK6
PRKG2
ADAMTSL3
HLA-B
CATSPER4
TMED10
NPR3
WDR40A
HHIP
PLAG1
rs8756-?
rs6088813-?
rs6763931-?
rs10946808-?
rs849141-?
rs6570507-?
rs1776897-?
rs3118914-?
rs1182188-?
rs6830062-?
rs2282978-?
rs710841-?
rs4842838-?
rs13437082-?
rs11809207-?
rs910316-?
rs10472828-?
rs7871764-?
rs1812175-?
rs7815788-?
0.17
0.11
0.35
0.43
0.23
0.42
0.49
0.39
0.27
0.23
0.08
0.12
0.32
0.13
0.23
0.15
0.26
0.44
0.49
0.39
5 x 10-14
1 x 10-13
3 x 10-12
6 x 10-12
3 x 10-11
4 x 10-11
8 x 10-11
4 x 10-10
3 x 10-9
5 x 10-9
1 x 10-8
2 x 10-8
3 x 10-8
5 x 10-8
6 x 10-8
1 x 10-7
3 x 10-7
2 x 10-6
4 x 10-6
5 x 10-6
.08 [0.06-0.10] SD decrease
.09 [0.07-0.11] SD decrease
.07 [0.05-0.09] SD increase
.07 [0.04-0.10] SD increase
.08 [0.06-0.10] SD increase
.08 [0.06-0.10] SD decrease
.12 [0.08-0.16] SD increase
.08 [0.05-0.11] SD decrease
.07 [0.04-0.10] SD increase
.1 [0.07-0.13] SD increase
.06 [0.04-0.08] SD decrease
.07 [0.04-0.10] SD increase
.06 [0.04-0.07] SD decrease
.07 [0.04-0.10] SD decrease
.07 [0.04-0.10] SD increase
.05 [0.03-0.07] SD increase
.06 [0.04-0.08] SD decrease
.06 [0.03-0.09] SD increase
.06 [0.03-0.09] SD decrease
.07 [0.04-0.10] SD decrease
Illumina
[229,216]
N
04/13/09 Nan
April 02, 2009
J Invest Dermatol
Genome-Wide Association Study of Tanning Phenotype in a Population of European Ancestry
Tanning 2,287 women 870 controls 6p25.3
11q14.3
5p13.3
16q24.3
11q14.3
16q24.3
14q32.2
12q13.13
21q22.3
5q33.1
EXOC2
TYR
MATP
MC1R
GRM5
MC1R
Intergenic
LOC440100
PRDM15
PPARGC1B
rs12210050-T
rs1393350-A
rs35391-T
rs11648785-T
rs10831496-G
rs154659-C
rs17094273-A
rs7969151-A
rs7279297-G
rs32579-A
NR
NR
NR
NR
NR
NR
NR
0.21
NR
NR
5 x 10-14
2 x 10-13
3 x 10-10
3 x 10-9
5 x 10-9
7 x 10-8
9 x 10-8
2 x 10-6
3 x 10-6
4 x 10-6
.22 [0.16-0.28] increase in tanning ability score
.19 [0.13-0.25] increase in tanning ability score
.44 [0.30-0.58] decrease in tanning ability score
.14 [0.10-0.18] decrease in tanning ability score
.14 [0.10-0.18] decrease in tanning ability score
.14 [0.08-0.20] increase in tanning ability score
.2 [0.12-0.28] increase in tanning ability score
.13 [0.07-0.19] increase in tanning ability score
.12 [0.06-0.18] decrease in tanning ability score
.11 [0.07-0.15] decrease in tanning ability score
Illumina
[528,173]
N
04/03/09 Thomas
March 29, 2009
Nat Genet
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)
Breast cancer 1,145 cases, 1,142 controls 8,625 cases, 9,657 controls 10q26.13
1p11.2
16q12.1
2q35
14q24.1
5q11.2
FGFR2
Intergenic
TOX3
Intergenic
RAD51L1
MAP3K1
rs2981579-T
rs11249433-C
rs3803662-T
rs13387042-A
rs999737-C
rs16886165-G
0.41
0.39
0.27
0.51
0.76
0.15
2 x 10-10
7 x 10-10
1 x 10-9
2 x 10-8
2 x 10-7
5 x 10-7
1.17 [1.07-1.27]
1.16 [1.09-1.24]
1.16 [1.07-1.27]
1.25 [1.15-1.37]
1.06 [1.01-1.14]
1.23 [1.12-1.35]
Illumina
[528,173]
N
03/31/09 Newton-Cheh
March 22, 2009
Nat Genet
Common variants at ten loci influence QT interval duation in the QTGEN Study
QT interval 13,685 individuals 15,854 individuals 1q23.3
1q23.3
1q23.3
16q21
6q22.31
11p15.5
1p36.31
7q36.1
7q36.1
11p15.5
16p13.13
3p22.2
17q12
NOS1AP
NOS1AP
NOS1AP
CNOT1,GINS3, NDRG4, SLC38A7, GOT2
c6orf204,SLC35F1, PLN, ASF1A
KCNQ1
RNF207,NPHP4, CHDS, ACOT7, PLEKHG5, KLH21
KCNH2
KCNH2
KCNQ1
LITAF,CLEC16A, SNN, ZC3H7A, TNFRSF17
SCN5A
LIG3,RFFL
rs12143842-T
rs12029454-A
rs16857031-G
rs37062-G
rs11756438-A
rs2074238-T
rs846111-C
rs4725982-T
rs2968864-C
rs12576239-T
rs8049607-T
rs12053903-C
rs2074518-T
0.26
0.15
0.14
0.24
0.47
0.06
0.28
0.22
0.25
0.13
0.49
0.34
0.46
2 x 10-78
3 x 10-45
1 x 10-34
3 x 10-25
5 x 10-22
3 x 10-17
1 x 10-16
5 x 10-16
8 x 10-16
1 x 10-15
5 x 10-15
1 x 10-14
6 x 10-12
3.15 [2.81-3.49] msec increase
2.98 [2.63-3.32] msec increase
2.63 [2.28-2.97] msec increase
1.75 [1.41-2.09] msec decrease
1.4 [1.06-1.74] msec increase
7.88 [6.16-9.59] msec decrease
1.75 [1.41-2.09] msec increase
1.58 [1.23-1.92] msec increase
1.4 [1.06-1.74] msec decrease
1.75 [1.41-2.09] msec increase
1.23 [0.88-1.57] msec increase
1.23 [0.88-1.57] msec decrease
1.05 [0.71-1.39] msec decrease
Affymetrix and Illumina
[up to 2,543,686] (imputed)
N
04/02/09 Pfeufer
March 22, 2009
Nat Genet
Common variants at ten loci modulate the QT interval duration in the QTSCD Study
QT interval 15,842 individuals up to 13,602 individuals 1q23.3
1q23.3
16q21
6q22.31
6q22.31
11p15.5
1p36.31
1q24.2
7q36.1
16p13.13
3p22.2
17q24.3
NOS1AP
NOS1AP
NDRG4
PLN
PLN
KCNQ1
RNF207
ATP1B1
KCNH2
LITAF
SCN5A
KCNJ2
rs12143842-T
rs4657178-T
rs7188697-A
rs11970286-T
rs12210810-C
rs12296050-T
rs846111-C
rs10919071-A
rs2968863-T
rs8049607-T
rs11129795-A
rs17779747-T
0.24
0.33
0.74
0.44
0.06
0.20
0.29
0.87
0.29
0.46
0.23
0.35
2 x 10-78
7 x 10-33
7 x 10-25
2 x 10-24
2 x 10-17
3 x 10-17
4 x 10-16
1 x 10-15
2 x 10-15
6 x 10-15
5 x 10-14
6 x 10-12
2.88 [2.43-3.33] ms increase
2.19 [1.76-2.62] ms increase
1.66 [1.20-2.12] ms increase
1.64 [1.25-2.03] ms increase
3.13 [2.29-3.97] ms decrease
1.44 [0.95-1.93] ms increase
1.49 [1.00-1.98] ms increase
2.05 [1.48-2.62] ms increase
1.35 [0.90-1.80] ms decrease
1.25 [0.81-1.69] ms increase
1.27 [0.82-1.72] ms decrease
1.02 [0.53-1.51] ms decrease
Affymetrix and Illumina
[unsure] (imputed)
N
04/02/09 Org
March 20, 2009
Hum Mol Genet
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations
Hypertension 364 cases, 590 controls 1,043 cases, 1,769 controls 16q23.3 CDH13 rs11646213-T 0.60 8 x 10-6 1.28 [1.15-1.43] Affymetrix
[395,912]
N
03/31/09 Pillai
March 20, 2009
PLoS Genet
A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci
Chronic Obstructive Pulmonary Disease 823 cases, 810 controls 2,840 family members, 389 cases, 472 controls 15q25.1
4q31.22
CHRNA3,CHRNA4,CHRNA5, IREB2, PSMA4, NP_001013641.2,Q9UD29
HHIP
rs8034191-C
rs1828591-?
0.33
NR
1 x 10-10
1 x 10-7
1.4 [1.18-1.67]
1.38 [1.17-1.63]
Ilumina
[493,609]
N
03/30/09 Takeuchi
March 20, 2009
PLoS Genet
A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose
Warfarin maintenance dose 1,053 individuals 588 individuals 16p11.2
10q23.33
10q23.33
19p13.12
VKORC1
CYP2C9
CYP2C9
CYP4F2
rs9923231-T
rs1057910-?
rs1799853-?
rs2108622-?
0.40
0.07
0.11
0.24
3 x 10-181
3 x 10-79
1 x 10-31
3 x 10-10
.97 [0.91-1.02] mg/week decrease
1.11 [1.00-1.22] mg/week decrease
.54 [0.45-0.63] mg/week decrease
.21 [0.14-0.27] mg/week increase
Illumina
[325,997]
N
03/31/09 Wilk
March 20, 2009
PLoS Genet
A Genome-Wide Association Study of Pulmonary Function Measures in the Framingham Heart Study
Pulmonary function measures 7,691 individuals 835 individuals 4q31.22 HHIP rs13147758-G 0.39 8 x 10-11 .1 [NR] % increase in FEV1/FVC ratio Affymetrix
[2,540,223] (imputed)
N
04/01/09 Tanaka
March 18, 2009
Am J Hum Genet
Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations
Folate pathway vitamin levels 2,934 individuals 686 individuals 19q13.33
1p36.12
10p13
11q12.1
3p14.1
FUT2
ALPL
CUBN
TCN1
PRICKLE2
rs602662-A
rs4654748-C
rs11254363-A
rs526934-A
rs153734-T
0.53
0.50
0.70
0.67
0.84
3 x 10-20 (vitamin B12)
8 x 10-18 (vitamin B6)
1 x 10-6 (vitamin B12)
2 x 10-6 (vitamin B12)
7 x 10-6 (folate)
49.77 [37.09-62.45] pg/ml increase
1.45 [0.90-2.00] ng/ml decrease
21.49 [7.71-35.27] pg/mL decrease
27.62 [11.65-43.59] pg/mL increase
.29 [0.13-0.45] ng/ml increase
Affymetrix and Illumina
[~2.5 million] (imputed)
N
03/31/09 Kilpivaara
March 15, 2009
Nat Genet
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms
Myeloproliferative neoplasms 324 cases, 2,999 controls NR 9p24.1 JAK2 rs10974944-? NR 4 x 10-20 3.1 [2.40-4.00] Affymetrix
[62,775]
N
03/31/09 Cui
March 14, 2009
Mol Med
Genome Wide Association Study of Determinants of Anti-cyclic Citrullinated Peptide Antibody Titer in Adults with Rheumatoid Arthritis
Anti-cyclic Citrullianted Peptide Antibody 531 individuals with rheumatoid arthritis 849 individuals with rheumatoid arthritis 6p21.32 HLA-DRA, HLA-DR3,BTNL2 rs1980493-? 0.13 5 x 10-7 NR Affymetrix
[97,248]
N
03/29/09 Liu
March 13, 2009
PLoS Genet
Genome-wide association analyses identify SPOCK as a key novel gene underlying age at menarche
Menarche (age at onset) 477 women 854 siblings, 762 women, 1,387 Chinese women NS NS NS NS NS NS Affymetrix
[379,319]
N
03/30/09 Tregouet
March 10, 2009
Blood
Common susceptibility allele are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach
Venous thromboembolism 419 cases, 1,228 controls 1,757 cases, 1,480 controls 9q34.2 ABO rs505922-C 0.35 4 x 10-15 1.81 [1.56-2.11] Illumina
[291,872]
N
03/28/09 Birnbaum
March 08, 2009
Nat Genet
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
Nonsyndromic cleft lip with or without cleft palate 224 cases, 383 controls 246 cases, 954 controls 8q24.21
1q32.2
PVT1, GSDMC
IRF6
rs987525-A
rs642961-A
0.20
NR
3 x 10-24
2 x 10-6
2.57 [2.02-3.26]
NR
Illumina
[521,176]
N
03/24/09 Liu
March 04, 2009
Am J Hum Genet
Genome-wide Association and Replication Studies Identified TRHR as an Important Gene for Lean Body Mass
Body mass (lean) 1,000 individuals 1,488 individuals, 1,972 family members, 2,955 Chinese individuals 8q23.1 TRHR rs7832552-T 0.32 4 x 10-10 .1 [0.04-0.16] kg increase Affymetrix
[379,319]
N
03/24/09 Vink
March 04, 2009
Am J Hum Genet
Genome-wide Association Study of Smoking Initiation and Current Smoking
Smoking behavior 3,540 individuals 6,405 individuals, 824 twin pairs NS NS NS NS NS NS Perlegen
[427,037]
N
03/28/09 Hattori
March 02, 2009
Am J Med Genet B Neuropsychiatr Genet
Preliminary genome-wide association study of bipolar disorder in the Japanese population
Bipolar disorder 107 cases, 107 controls 395 cases, 409 controls NS NS NS NS NS NS Affymetrix
[88,671]
N
04/01/09 Caporaso
February 27, 2009
PLoS ONE
Genome-wide and candidate gene association study of cigarette smoking behaviors
Smoking behavior 4,611 individuals (2,617 smokers) NR 3q13.12
1p22.3
1p35.2
3q24
12q21.2
16p13.2
18q11.2
19p12
5q14.3
9p21.2
9q31.1
Xq23
14q24.1
17p13.2
Xp11.3
12q21.33
13q33.1
4q31.1
7p15.2
3q27.2
4q28.1
BBX
AK002179
Intergenic
Intergenic
Intergenic
Intergenic
CABLES1
ZNF505
LOC133789
Intergenic
Intergenic
TRPC5
ACTN1
CAMKK1
MAOA
Intergenic
Intergenic
SET7
Intergenic
Intergenic
Intergenic
rs6437740-?
rs7553864-?
rs910696-?
rs800082-?
rs1402279-?
rs3112740-?
rs11082304-?
rs10411195-?
rs933688-?
rs1889899-?
rs10989661-?
rs7050529-?
rs2268983-?
rs758642-?
rs3027409-?
rs1847461-?
rs912969-?
rs17050782-?
rs886716-?
rs6444087-?
rs950063-?
0.24
0.39
0.31
0.42
0.95
0.86
0.49
0.03
0.17
0.37
0.74
0.07
0.51
0.34
0.95
0.94
0.07
0.21
0.69
0.26
0.39
2 x 10-7 (CPD)
3 x 10-6 (SMKDU)
3 x 10-6 (CPD)
3 x 10-6 (PKYRS)
5 x 10-6 (EVNV)
6 x 10-6 (CPDBI)
6 x 10-6 (SMKAGE)
6 x 10-6 (CPD)
6 x 10-6 (EVNV)
6 x 10-6 (EVNV)
6 x 10-6 (CIGSTAT)
6 x 10-6 (CPD)
7 x 10-6 (CPDBI)
7 x 10-6 (CPD)
7 x 10-6 (CPDBI)
8 x 10-6 (CIGSTAT)
8 x 10-6 (SMKDU)
8 x 10-6 (SMKAGE)
8 x 10-6 (CPDBI)
9 x 10-6 (EVNV)
9 x 10-6 (SMKDU)
.1 [NR] fewer cigarettes per day
.08 [NR] more years
.08 [NR] more cigarettes per day
.12 [NR] more pack years
1.51 [NR]
2.16 [NR]
.03 [NR] years older
.21 [NR] fewer cigarettes per day
1.48 [NR]
1.26 [NR]
1.68 [NR]
.06 [NR] fewer cigarettes per day
1.52 [NR]
.08 [NR] more cigarettes per day
1.73 [NR]
1.8 [NR]
.14 [NR] fewer years
.03 [NR] years older
1.52 [NR]
1.28 [NR]
.08 [NR] fewer years
Illumina
[~518,000] (pooled)
N
03/18/09 Pezzolesi
February 27, 2009
Diabetes
Genome-wide Association Scan for Diabetic Nephropathy Susceptibility Genes in Type 1 Diabetes Mellitus
Diabetic nephropathy 820 cases, 885 controls 1,304 individuals NS NS NS NS NS NS Affymetrix
[359,193]
N
03/18/09 Gu
February 25, 2009
Nature
Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease
Cystic fibrosis severity 160 severe lung disease patients, 160 mild lung disease patients (all homozygous for CFTR deltaF508 variant) 101 severe lung disease patients, 381 mild lung disease patients, 1,118 family members NS NS NS NS NS NS Affymetrix
[100,198] (pooled)
N
03/18/09 Xiong
February 25, 2009
Am J Hum Genet
Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups
Bone mineral density 1,000 white individuals 4,925 white individuals, 350 Chinese hip fracture cases, 350 Chinese controls, 2,955 Chinese individuals, 908 West African men 16q23.1
1p22.2
ADAMTS18
TGFBR3
rs11864477-C
rs17131547-A
0.12
0.01
2 x 10-8 (hip BMD)
1 x 10-6 (spine BMD)
1 % [NR] of variance explained
1.2 % [NR] of variance explained
Affymetrix
[379,319]
N
03/01/09 Schrauwen
February 18, 2009
Am J Hum Genet
A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis
Otosclerosis 302 cases, 302 controls 847 cases, 872 controls 7q22.1 RELN rs3914132-? 0.23 2 x 10-8 1.54 [1.32-1.79] Illumina
[~555,000] (pooled)
N
05/07/09 Smith
February 15, 2009
Heart Rhythm
Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae
Electrocardiographic conduction measures 1,262 Kosraen individuals NR 3p22.2
4p16.1
3p22.2
1q32.1
4q31.3
2q31.1
6p12.2
SCN5A
MSX1
SCN5A
NR
NR
Intergenic
NR
rs7638909-G
rs2008242-?
rs2070488-A
rs7512898-?
rs17030434-?
rs2461751-G
rs283566-?
0.40
0.15
0.33
0.41
0.43
0.44
0.16
2 x 10-6 (PR interval)
3 x 10-6 (PR segment)
4 x 10-6 (PR interval)
5 x 10-6 (PR segment)
5 x 10-6 (P wave duration)
8 x 10-6 (PR interval)
9 x 10-6 (P wave duration)
4.8 [2.84-6.76] ms increase
NR
5 [2.84-7.16] ms decrease
NR
NR
4.54 [2.58-6.50] ms increase
NR
Affymetrix
[338,049]
N
02/28/09 Zheng
February 15, 2009
Nat Genet
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1
Breast cancer 1,505 Chinese cases, 1,522 Chinese controls 1,554 Chinese cases, 1,576 Chinese controls 6q25.1 C6orf97 rs2046210-A 0.37 2 x 10-15 1.29 [1.21-1.37] Affymetrix
[up to 607,728]
N
02/28/09 Soranzo
February 12, 2009
Blood
A novel variant on chromosome 7Q22.3 associated with mean platelet volume, counts and function
Mean platelet volume 1,221 individuals 7,365 individuals 7q22.3 Intergenic rs342293-G 0.45 1 x 10-24 .02 [0.014-0.018] log fl increase Affymetrix
[361,352]
N
03/01/09 Erdmann
February 08, 2009
Nat Genet
New susceptibility locus for coronary artery disease on chromosome 3q22.3
Coronary artery disease 6,990 cases, 8,955 controls 12,417 cases, 12,411 controls 3q22.3
12q24.31
MRAS
HNF1A,C12orf43
rs9818870-T
rs2259816-T
0.15
0.36
7 x 10-13
5 x 10-7
1.15 [1.11-1.19]
1.08 [1.05-1.11]
Affymetrix
[567,119]
N
03/01/09 Gudbjartsson
February 08, 2009
Nat Genet
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
Plasma eosinophil count 9,392 individuals 12,118 individuals 12q24.12
3q21.3
2q12.1
5q31.1
2q34
5q22.1
6p21.32
SH2B3
GATA2
IL1RL1
IL5
IKZF2
WDR36, TSLP
MHC
rs3184504-T
rs4857855-T
rs1420101-A
rs4143832-C
rs12619285-G
rs2416257-G
rs2269426-T
0.38
0.82
0.41
0.16
0.74
0.85
0.76
7 x 10-19 (European)
9 x 10-17 (European)
5 x 10-14 (European)
1 x 10-10 (European)
5 x 10-10 (European)
1 x 10-6 (European)
3 x 10-6 (European)
7.6 [5.9-9.3] % standard unit increase
9.4 [7.2-11.6] % standard unit increase
6.4 [4.7-8.1] % standard unit increase
7.1 [4.9-9.2] % standard unit increase
6.3 [4.3-8.3] % standard unit increase
6.1 [3.7-8.6] % standard unit increase
4.6 [2.7-6.6] % standard unit increase
Illumina
[312,179]
N
03/01/09 Kathiresan
February 08, 2009
Nat Genet
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Myocardial infarction (early onset) 2,967 cases, 3,075 controls 9,746 cases, 9,746 controls 9p21.3
1p13.3
21q22.11
1q41
6p24.1
19p13.2
10q11.21
1p32.3
2q33.1
CDKN2A, CDKN2B
CELSR2, PSRC1, SORT1
SLC5A3, MRPS6, KCNE2
MIA3
PHACTR1
LDLR
CXCL12
PCSK9
WDR12
rs4977574-G
rs646776-T
rs9982601-T
rs17465637-C
rs12526453-C
rs1122608-G
rs1746048-C
rs11206510-T
rs6725887-C
0.56
0.81
0.13
0.72
0.65
0.75
0.84
0.81
0.14
3 x 10-44
8 x 10-12
6 x 10-11
1 x 10-9
1 x 10-9
2 x 10-9
7 x 10-9
1 x 10-8
1 x 10-8
1.29 [1.25-1.34]
1.19 [1.13-1.26]
1.2 [1.14-1.27]
1.14 [1.10-1.19]
1.12 [1.08-1.17]
1.15 [1.10-1.20]
1.17 [1.11-1.24]
1.15 [1.10-1.21]
1.17 [1.11-1.23]
Affymetrix
[~2.5 million] (imputed)
N
04/01/09 Tregouet
February 08, 2009
Nat Genet
Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease
Coronary artery disease 1,926 cases, 2,938 controls 7,073 cases, 7,325 controls 6q25.3
6q25.3
SLC22A3,LPAL2,LPA
SLC22A3,LPAL2,LPA
4-SNP haplotype-2
4-SNP haplotype-1
0.02
0.16
4 x 10-15 (CCTC)
1 x 10-9 (CTTG)
1.82 [1.57-2.12]
1.2 [1.13-1.28]
Affymetrix
[~500,000]
N
02/28/09 Gudmundsson
February 06, 2009
Nat Genet
Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations
Thyroid cancer 192 cases, 37,196 controls 432 cases, 1,727 controls 9q22.33
14q13.3
FOXE1
NKX2-1
rs965513-A
rs944289-T
0.34
0.57
2 x 10-27
2 x 10-9
1.75 [1.59-1.94]
1.37 [1.24-1.52]
Illumina
[304,083]
N
10/15/09 Lowe
February 06, 2009
PLoS Genet
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae
Quantitative traits Up to 2,906 Micronesian individuals NR 11q23.3
19q13.32
19q13.32
3q25.33
10p12.33
5q13.3
7p22.2
9q22.33
10p15.3
12p13.33
19q13.32
19q13.32
20q13.12
7p14.1
7q36.3
9p21.3
2q22.2
12q24.13
12q24.31
19q13.32
5q35.3
9p21.3
10p13
10p13
2p23.3
5q13.3
5q35.1
4q21.21
10p15.3
6q16.2
6p22.3
7p21.3
7q34
Intergenic
TOMMM40, APOC2, APOE, APOC4, APOC1
MGC2650, BLOC1S3, XTP7
SCHIP1
CACNB2
COL4A3BP, HMGCR
SDK1
HEMGN, C9ORF156
ADARB2
ENSG00000118975, FKBP4
TOMM40, APOC2, APOE, APOC4, APOC1
MGC2650, BLOC1S3, XTP7
Intergenic
Intergenic
UBE3C
Intergenic
ARHGAP15
Intergenic
SPPL3
TOMM40, APOC2, APOE, APOC4, APOC1
MGAT1
Intergenic
ITGA8
CUBN
ENSG0000173957, UBXD4, FKBP1B, FLJ21945
COL4A3BP, HMGCR
Intergenic
Intergenic
ADARB2
Intergenic
Intergenic
Intergenic
TRIM24
rs7396835-T
rs4420638-G
rs2159324-T
rs2222328-C
rs7069923-C
rs3846663-T
rs6462411-C
rs755109-C
rs6560749-T
rs10848704-C
rs4420638-G
rs2159324-T
rs6066084-A
rs10486715-A
rs2527866-C
rs2225614-C
rs10928195-C
rs11066587-G
rs1039302-T
rs4420638-G
rs655601-A
rs613391-G
rs7895372-G
rs10508517-A
rs7561273-A
rs3846663-T
rs254893-A
rs10518224-A
rs6560749-T
rs6909430-G
rs10498712-G
rs17157663-A
rs1874326-G
0.32
0.21
0.44
0.32
0.49
0.39
0.20
0.23
0.14
0.35
0.21
0.44
0.06
0.07
0.23
0.50
0.08
0.16
0.36
0.21
0.47
0.49
0.04
0.43
0.35
0.39
0.06
0.23
0.14
0.08
0.25
0.32
0.47
1 x 10-9 (TG)
3 x 10-7 (TC)
4 x 10-7 (LDL-C)
8 x 10-7 (WC)
1 x 10-6 (SBP)
1 X 10-6 (LDL-C)
1 x 10-6 (TSH)
1 x 10-6 (TSH)
2 x 10-6 (BMI)
2 x 10-6 (TSH)
2 x 10-6 (CRP)
2 x 10-6 (CRP)
2 x 10-6 (% body fat)
3 x 10-6 (height)
3 x 10-6 (SBP)
3 x 10-6 (weight)
4 x 10-6 (weight)
5 x 10-6 (CRP)
5 x 10-6 (CRP)
5 x 10-6 (TG)
5 x 10-6 (HDL-C)
5 x 10-6 (WC)
6 x 10-6 (TC)
6 x 10-6 (DBP)
6 x 10-6 (CRP)
6 x 10-6 (TC)
6 x 10-6 (DBP)
7 x 10-6 (TG)
8 x 10-6 (% body fat)
8 x 10-6 (TSH)
9 x 10-6 (HDL-C)
9 x 10-6 (TC)
9 x 10-6 (weight)
.23 [NR] mg/dL increase
.28 [NR] mg/dL increase
.21 [NR] mg/dL decrease
.22 [NR] inch decrease
.19 [NR] mm Hg increase
.21 [NR] mg/dL increase
.36 [NR] mIU/L decrease
.31 [NR] mIU/L decrease
.32 [NR] kg/m2 decrease
.29 [NR] mIU/L decrease
.28 [NR] mg/L decrease
.19 [NR] mg/L decrease
.85 [NR] % increase
.44 [NR] inch decrease
.27 [NR] mm Hg decrease
.21 [NR] lb. decrease
.36 [NR] lb. decrease
.26 [NR] mg/L increase
.21 [NR] mg/L increase
.22 [NR] mg/dL increase
.23 [NR] mg/dL increase
.2 [NR] inch increase
.35 [NR] mg/dL decrease
.18 [NR] mm Hg decrease
.22 [NR] mg/L decrease]
.19 [NR] mg/dL increase
.58 [NR] mm Hg decrease
.19 [NR] mg/dL increase
.34 [NR] % decrease
.49 [NR] mIU/L decrease
.23 [NR] mg/dL increase
.18 [NR] mg/dL decrease
.22 [NR] lb. increase
Affymetrix
[408,775]
N
08/21/09 Need
February 06, 2009
PLoS Genet
A genome-wide investigation of SNPs and CNVs in schizophrenia
Schizophrenia 871 European ancestry cases, 863 European ancestry controls 1,460 European ancestry cases, 12,995 European ancestry controls NS NS NS NS NS NS Illumina
[312,565] (pooled)
N
02/27/09 Garcia-Barcelo
February 05, 2009
Proc Natl Acad Sci USA
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
Hirschsprung's disease 181 Chinese cases, 346 Chinese controls 190 Chinese cases, 510 Chinese controls 10q21.1
8p12
RET, GALNACT-2, RASGEF1A
NRG1
rs2742234-T
rs16879552-G
NR
0.39
4 x 10-18
2 x 10-8
NR
1.68 [1.40-2.00]
Affymetrix
[293,836]
N
03/31/09 Chio
February 04, 2009
Hum Mol Genet
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis 553 cases, 2,338 controls 3,149 cases, 3,335 controls NS NS NS NS NS NS Illumina
[545,066]
N
02/27/09 Liu
February 03, 2009
Mol Psychiatry
Genome-wide association analyses suggested a novel mechanism for smoking behavior regulated by IL15
Smoking behavior 417 Caucasian males, 423 Caucasian females 412 African American males, 839 African American females, 3,491 Caucasian males, 4,132 Caucasian females NS NS NS NS NS NS Affymetrix
[379,319]
N
02/28/09 Kim
February 01, 2009
Clin Exp Allergy
Alpha-T-catenin (CTNNA3) gene was identified as a risk variant for toluene diisocyanate-induced asthma by genome-wide association analysis
Asthma (toluene diisocyanate-induced) 84 Korean cases, 263 Korean controls NR 13q12.13
10q21.3
9p21.3
Intergenic
CTNNA3
Intergenic
rs9319321-T
rs10762058-G
rs16937883-G
0.29
0.25
0.02
3 x 10-6
6 x 10-6
7 x 10-6
5.2 [2.47-10.92]
5 [2.36-10.6]
5.29 [2.41-11.61]
Affymetrix
[312,978]
N
02/27/09 Kim
February 01, 2009
Pharmacogenomics
Genome-wide association study of acute post-surgical pain in humans
Pain 60 females, 52 males NR 19p12
11q23.3
1p21.3
LOC400680, ZNF429
NR
NR
rs2562456-?
rs17122021-?
rs6693882-?
NR
NR
NR
2 x 10-10 (onset time of analgesia)
7 x 10-7 (maximum post-operative pain rating)
2 x 10-6 (post-operative pain onset time)
NR
NR
NR
Affymetrix
[374,975]
N
03/30/09 Polasek
February 01, 2009
Croat Med J
Genome-wide association study of anthropometric traits in Korcula Island, Croatia
Anthropometric traits 898 individuals NR 16p11.2
14q32.13
14q23.3
5q33.3
7q22.1
1p36.32
7q22.1
13q14.3
2q31.1
5q33.3
7q22.1
2p22.3
5q33.2
SEZ6L2
LOC122509, FAM14B
MAX
SGCD
ZNF498
Intergenic
ZNF498
XTP498
Intergenic
SGCD
ZNF498
CRIM1
AMPA1, GRIA1
rs4787483-?
rs7157940-?
rs7158173-?
rs157350-?
rs7792939-?
rs7513590-?
rs7792939-?
rs7792939-?
rs7590983-?
rs157350-?
rs7792939-?
rs1863080-?
rs12658202-?
0.34
0.46
0.48
0.11
0.15
0.10
0.15
0.28
0.05
0.11
0.15
0.10
0.45
2 x 10-6 (waist cirumference)
3 x 10-6 (weight)
4 x 10-6 (waist circumference)
4 x 10-6 (brachial circumference)
4 x 10-6 (weight)
5 x 10-6 (height)
5 x 10-6 (brachial circumference)
6 x 10-6 (brachial circumference)
6 x 10-6 (BMI)
6 x 10-6 (hip circumference)
6 x 10-6 (hip circumference)
8 x 10-6 (brachial circumference)
9 x 10-6 (height)
.16 [0.09-0.23] mm increase
.12 [0.07-0.17] kg increase
.11 [0.06-0.16] mm decrease
.31 [0.18-0.44] mm decrease
.26 [0.15-0.37] kg increase
.31 [0.17-0.45] mm decrease
.26 [0.15-0.37] mm increase
.17 [0.10-0.24] mm increase
.46 [0.26-0.66] kg/m2 increase
.31 [0.18-0.44] mm decrease
.26 [0.15-0.37] mm increase
.31 [0.17-0.45] mm increase
.11 [0.06-0.16] mm increase
Illumina
[316,730]
N
02/25/09 Stefansson
February 01, 2009
Nat Genet
Variant in the sequence of the LINGO1 gene confers risk of essential tremor
Essential tremor 452 cases, 14,378 controls 300 cases, 1,419 controls 15q24.3 LINGO1 rs9652490-G 0.23 1 x 10-9 1.55 [1.35-1.79] Illumina
[305,624]
N
03/31/09 Zemunik
February 01, 2009
Croat Med J
Genome-wide association study of biochemical traits in Korcula Island, Croatia
Biochemical measures 898 individuals NR 4p16.1
12q24.23
4q12
4q13.1
6q16.3
12q12
4q31.23
Xp22.31
12q21.33
12q24.23
4q23
18q12.3
Xq23
20p12.1
21q22.3
21q22.3
16q13
SLC2A9
KSR2
USP46
LPHN3
GRIK2
Intergenic
NR3C2
Neuroligin 4
Intergenic
KSR2
RAP1GDS1
SLC14A2
ZCCHC16
PCSK2
PKNOX1
PKNOX1
CETP
rs13129697-C
rs4767631-A
rs346923-A
rs4599440-A
rs12207601-G
rs871392-A
rs1490453-A
rs7885458-G
rs10777332-A
rs10444502-C
rs10516430-A
rs10502868-G
rs5982533-G
rs6044777-A
rs2839619-G
rs2839619-G
rs7499892-A
0.25
0.31
0.13
0.23
0.16
0.15
0.17
0.24
0.11
0.28
0.28
0.08
0.22
0.17
0.40
0.40
0.16
1 x 10-9 (uric acid)
6 x 10-7 (LDL cholesterol)
2 x 10-6 (triglycerides)
2 x 10-6 (HDL cholesterol)
2 x 10-6 (fibrinogen)
3 x 10-6 (HDL cholesterol)
3 x 10-6 (fibrinogen)
3 x 10-6 (fibrinogen)
5 x 10-6 (total cholesterol)
6 x 10-6 (total cholesterol)
6 x 10-6 (triglycerides)
7 x 10-6 (albumin)
7 x 10-6 (triglycerides)
8 x 10-6 (fibrinogen)
8 x 10-6 (total cholesterol)
8 x 10-6 (LDL cholesterol)
9 x 10-6 (HDL cholesterol)
.29 [0.21-0.37] umol/l decrease
.12 [0.11-0.23] mmol/L decrease
.28 [0.17-0.39] mmol/L decrease
.2 [0.12-0.28] mmol/L increase
.26 [0.15-0.37] g/L decrease
.26 [0.15-0.37] mmol/L decrease
.25 [0.15-0.35] g/L increase
.23 [0.13-0.33] g/L decrease
.24 [0.14-0.34] mmol/L decrease
.17 [0.10-0.24] mmol/L decrease
.16 [0.09-0.23] mmol/L decrease
.04 [0.21-0.51] g/L decrease
.23 [0.13-0.33] mmol/L decrease
.23 [0.13-0.33] g/L increase
.13 [0.07-0.19] mmol/L increase
.13 [0.08-0.18] mmol/L increase
.24 [0.14-0.34] mmol/L decrease
Illumina
[316,730]
N
02/25/09 Timpson
January 30, 2009
Hum Mol Genet
Common variants in the region around Osterix are associated with bone mineral density and growth in childhood
Bone mineral density 1,418 children, 135 adults 3,875 children NS NS NS NS NS NS Illumina
[up to 315,807]
N
02/28/09 Ferrucci
January 29, 2009
Am J Hum Genet
Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study
Plasma carotenoid and tocopherol levels 1,191 individuals 2,751 individuals 16q23.2
11q23.3
BCMO1
APOA5
rs6564851-G
rs12272004-A
0.39
0.07
2 x 10-24 (beta-carotene)
8 x 10-10 (alpha-tocopherol)
.15 [0.120-0.177] umol/L increase
.07 [0.049-0.095] umol/L increase
Illumina
[~500,451] (pooled)
N
02/26/09 Yang
January 28, 2009
JAMA
Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia
Treatment response for acute lymphoblastic leukemia 487 children NR 10p12.33
2q33.1
4q31.21
20q13.12
7p14.2
7p21.2
10q26.12
11p15.1
6q25.3
5p13.2
10p14
11q21
ST8SIA6
C2orf47
IL15
NCOA3
ELMO1
DGKB
intergenic
intergenic
intergenic
LMBRD2
Intergenic
MAML2
rs359312-T
rs1569175-T
rs17007695-C
rs6125048-T
rs4723619-C
rs6971925-T
rs2901286-A
rs7128311-C
rs35229355-T
rs267759-A
rs10508343-A
rs7115578-A
0.04
0.11
0.10
0.04
0.07
0.02
0.03
0.03
0.03
0.05
0.04
0.64
9 x 10-8
9 x 10-7
9 x 10-7
2 x 10-6
3 x 10-6
3 x 10-6
4 x 10-6
5 x 10-6
5 x 10-6
7 x 10-6
8 x 10-6
8 x 10-6
3.91 [1.52-10.10]
2.73 [1.52-4.93]
2.67 [1.53-4.68]
2.73 [1.08-6.88]
3.01 [1.50-6.03]
13.91 [2.72-70.92]
4.66 [1.58-13.7]
13.9 [2.72-71.1]
7.24 [2.46-21.30]
3.23 [1.52-6.87]
3.81 [1.40-10.40]
1.86 [1.23-2.79]
Affymetrix
[476,796]
N
02/06/09 Nair
January 25, 2009
Nat Genet
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways
Psoriasis 1,359 cases, 1,400 controls 5,048 cases, 5,041 controls 6p21.33
5q33.3
5q33.1
5q31.1
6q23.3
12q13.2
1p31.3
9q34.13
HLA-C
IL12B
TNIP1
IL13
TNFAIP3
IL23A, STAT2
IL23R
TSC1
rs12191877-T
rs2082412-G
rs17728338-A
rs20541-G
rs610604-G
rs2066808-A
rs2201841-G
rs1076160-T
0.15
0.80
0.054
0.79
0.32
0.93
0.30
0.48
1 x 10-100
2 x 10-28
1 x 10-20
5 x 10-15
9 x 10-12
1 x 10-9
3 x 10-8
6 x 10-6
2.64 [NR]
1.44 [NR]
1.59 [NR]
1.27 [NR]
1.19 [NR]
1.34 [NR]
1.13 [NR]
1.09 [NR]
Perlegen
[~2.5 million] (imputed)
N
02/07/09 Zhang
January 25, 2009
Nat Genet
Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21
Psoriasis 1,139 Chinese cases, 1,132 Chinese controls 5,721 Chinese cases, 7,340 Chinese controls 1q21.3
5q33.3
6p21.33
LCE3D, LCE3A
IL12B
MHC
rs4085613-A
rs3213094-A
rs1265181-?
0.43
0.45
NR
7 x 10-30
3 x 10-26
1.32 [1.25-1.39]
1.28 [1.23-1.35]
22.62
Illumina
[494,902]
N
02/26/09 Otowa
January 23, 2009
J Hum Genet
Genome-wide association study of panic disorder in the Japanese population
Panic disorder 200 Japanese cases, 200 Japanese controls NR 12p13.31
1q32.1
17q25.1
12q13.13
13q32.1
6q25.1
8p21.1
1p13.3
3p26.1
12q12
19q13.33
6p12.3
14q23.1
20p13
5q21.1
12q24.33
21q21.1
TMEM16B
PKP1
SDK2
CALCOCO1
Intergenic
PLEKHG1
CLU
Intergenic
GRM7
Intergenic
Intergenic
TNFRSF21
Intergenic
SMOX
Intergenic
Intergenic
USP25
rs12579350-?
rs860554-?
rs3816995-?
rs941184-?
rs9302001-?
rs9372078-?
rs17466684-?
rs12061304-?
rs3749380-?
rs2731006-?
rs3810265-?
rs2103868-?
rs4901869-?
rs16989303-?
rs4702982-?
rs7299940-?
rs2823455-?
0.01
0.05
0.03
0.03
0.20
0.11
0.09
0.10
0.25
0.29
0.07
0.26
0.02
0.21
0.16
0.29
0.03
4 x 10-9
5 x 10-8
2 x 10-7
3 x 10-7
3 x 10-7
5 x 10-7
7 x 10-7
1 x 10-6
2 x 10-6
4 x10-6
4 x 10-6
5 x 10-6
6 x 10-6
6 x 10-6
6 x 10-6
7 x 10-6
9 x 10-6
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[253,903]
N
02/25/09 Ling
January 22, 2009
Obesity
Genome-wide Linkage and Association Anaylses to Identify Genes Influencing Adiponectin Levels: The GEMS Study
Adiponectin levels 997 cases, 989 controls NR 3q27.3
5q35.2
ADIPOQ
Intergenic
rs6773957-A
rs7722022-?
0.37
NR
5 x 10-8
9 x 10-6
NR
NR
Affymetrix
[398,625]
N
03/03/09 Meyre
January 18, 2009
Nat Genet
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
Obesity 695 obese adults, 685 obese children, 731 lean adults, 685 lean children 1,171 obese adults, 896 obese children, 1,114 lean adults, 1,297 lean children, 4,417 adults, 5,291 children 16q12.2
18q21.32
16q23.2
10p13
18q11.2
FTO
MC4R
MAF
PTER
NPC1
rs1421085-C
rs17782313-C
rs1424233-A
rs10508503-C
rs1805081-A
0.40
0.18
0.43
0.91
0.56
1 x 10-28 (children)
5 x 10-15 (children)
4 x 10-13 (children)
2 x 10-7 (children)
3 x 10-7 (children)
1.39 [1.27-1.51]
1.22 [1.05-1.40]
1.12 [1.00-1.24]
1.56 [1.10-2.78]
1.33 [1.08-1.75]
Illumina
[308,846]
N
01/21/09 Tanaka
January 16, 2009
PLoS Genet
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study
Plasma levels of polyunsaturated fatty acids 1,210 individuals 1,076 individuals NS NS NS NS NS NS Illumina
[495,343]
N
02/27/09 Carrasquillo
January 11, 2009
Nat Genet
Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease
Alzheimer's disease 844 cases, 1,255 controls 1,547 cases, 1,209 controls Xq21.31 PCDH11X rs2573905-? 0.46 2 x 10-7 1.29 [1.17-1.42] Illumina
[313,504]
N
01/21/09 Burgner
January 09, 2009
PLoS Genet
A genome-wide association study identifies novel and functionally related susceptibility loci for Kawasaki disease
Kawasaki disease 107 cases, 134 controls 583 cases, 1,357 family members 3q26.31
16q22.3
NAALADL2
ZFHX3
rs17531088-T
rs7199343-T
0.44
0.30
1 x 10-6
2 x 10-6
1.43 [1.32-1.53]
1.56 [1.33-1.92]
Affymetrix
[223,922]
N
02/25/09 Feulner
January 07, 2009
Mol Psychiatry
Examination of the current top candidate genes for AD in a genome-wide association study
Alzheimer's disease 491 cases, 479 controls NR 19q13.32 TOMM40, APOE rs157580-? NR 1 x 10-40 NR Illumina
[~550,000]
N
01/21/09 Ober
January 07, 2009
J Lipid Res
Genome-wide association study of plasma Lp(a)levels Identifies multiple genes on chromosome 6q
Plasma Lp (a) levels 357 individuals 1,054 individuals 6q25.3 LPA rs6919346-? 0.16 4 x 10-11 .66 [mg/dl decrease] Affymetrix
[290,327]
N
01/21/09 Silverberg
January 04, 2009
Nat Genet
Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study
Ulcerative colitis 1,022 cases, 2,503 controls 1,387 cases, 1,115 controls 6p21.32
1p36.13
12q15
1p36.13
1p31.3
1p31.3
12q15
7q31.1
9q21.32
7q31.1
7q31.1
7q31.1
BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB1, HLA-DQA1, HLA-DQB1
OTUD3, PLA2G2E
IFNG, IL26, IL22
RNF186
IL23R
IL23R
IL26
SLC26A3, DLD, LAMB1
Intergenic
Intergenic
SLC26A3, DLD, LAMB1
SLC26A3, DLD, LAMB1
rs2395185-?
rs6426833-G
rs1558744-A
rs3806308-?
rs11209026-?
rs10889677-A
rs2870946-G
rs4598195-?
rs668853-G
rs4730273-?
rs2158836-A
rs4730276-?
0.67
0.54
0.38
0.63
0.93
0.30
0.055
0.54
0.39
0.70
0.35
0.39
1 x 10-16
5 x 10-13
3 x 10-12
7 x 10-9
1 x 10-8
1 x 10-8
5 x 10-7
1 x 10-6
2 x 10-6
5 x 10-6
7 x 10-6
9 x 10-6
1.52
1.37
1.35
1.28
1.79
1.29
1.54
1.23
1.2
1.22
1.21
1.22
Illumina
[280,748]
N
01/21/09 Beecham
January 03, 2009
Am J Hum Genet
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease
Alzheimer's disease 492 cases, 496 controls 238 cases, 220 controls 12q13.11
19q13.31
1q42.2
FAM113B
ZNF224
DISC1
rs11610206-?
rs2061333-?
rs12044355-?
NR
NR
NR
3 x 10-7
2 x 10-6
9 x 10-6
NR
NR
NR
Illumina
[~2.5 million] (imputed)
N
02/27/09 Hinks
January 01, 2009
Arthritis Rheum
Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis
Arthritis (juvenile idiopathic) 279 cases, 184 controls up to 654 cases, 1,847 controls 1p13.1 VTCN1 rs12046117-? 0.09 1 x 10-6 1.58 [1.29-1.94] Affymetrix
[88,862]
N
01/16/09 Limou
January 01, 2009
J Infect Dis
Genomewide Association Study of an AIDS-Nonprogression Cohort Emphasizes the Role Played by HLA Genes (ANRS Genomewide Association Study 02).
AIDS progression 275 HIV positive patients, 1,438 controls 626 patients 6p21.33
6p21.33
6p21.33
HCP5, MICB, MCCD1, BAT1, LTB, TNF
HLA-C
ZNRD1, RNF39
rs2395029-G
rs10484554-T
rs8321-G
0.03
0.13
NR
3 x 10-19
6 x 10-8
5 x 10-7
3.47 [2.39-5.04]
NR
NR
Illumina
[291,119]
N
02/26/09 Sun
January 01, 2009
Cancer Res
Sequence variants at 22q13 are associated with prostate cancer risk
Prostate cancer 1,235 aggressive cases, 1,599 controls 3,629 aggressive cases, 4,255 non-aggressive cases, 5,738 controls 22q13.1 TNRC6B rs9623117-C 0.21 5 x 10-7 1.18 [1.11-1.26] Affymetrix and Illumina
[~2 million] (imputed)
N
01/14/09 Zhang
December 31, 2008
Mol Psychiatry
Singleton deletions throughout the genome increase risk of bipolar disorder
Bipolar disorder 1,001 cases, 1,033 controls NR Pending Pending Pending Pending Pending Pending Affymetrix
[51,757 CNVs]
Y
01/14/09 Wang
December 29, 2008
Proc Natl Acad Sci USA
Whole-genome association study identifies STK39 as a hypertension susceptibility gene
Blood pressure 542 individuals 6,583 individuals 2q24.3 STK39 rs6749447-G 0.28 2 x 10-7 1.9 [1.2-2.6] mm Hg increase in DBP Affymetrix
[79,447]
N
01/14/09 Meisinger
December 24, 2008
Am J Hum Genet
A genome-wide association study identifies three loci associated with mean platelet volume
Mean platelet volume 1,606 individuals 8,617 individuals 12q24.31
17q11.2
3p14.3
WDR66
TAOK1
ARHGEF3
rs7961894-A
rs2138852-C
rs12485738-A
0.11
0.47
0.30
7 x 10-48
7 x 10-28
4 x 10-27
.03 [0.03-0.04] per log fl increase
.02 [0.01-0.02] per log fl decrease
.02 [0.01-0.02] per log fl increase
Affymetrix
[335,152]
N
02/04/09 Muglia
December 23, 2008
Mol Psychiatry
Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts
Major depressive disorder 1,359 cases, 1,782 controls NR 12p13.32 CCND2 rs4238010-G 0.02 6 x 10-6 1.72 Illumina and Affymetrix
[494,678] (imputed)
N
06/22/09 Pare
December 19, 2008
PLoS Genet
Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study
Glycated hemoglobin levels 14,618 Caucasian women 455 Caucasian men and women 10q21.3
7p13
2q24.3
8q24.11
HK1
GCK
G6PC2
SLC30A8
rs7072268-A
rs730497-A
rs1402837-A
rs13266634-A
0.50
0.17
0.23
0.30
2 x 10-25
6 x 10-12
5 x 10-10
5 x 10-8
.05 [NR] % increase
.03 [NR] % increase
.02 [NR] % increase
.02 [NR] % decrease
Illumina
[337,343]
N
01/14/09 Benyamin
December 17, 2008
Am J Hum Genet
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
Serum markers of iron status 459 twin pairs NR 3q22.1
6p22.1
6p22.1
6p22.1
6p22.1
6p22.1
6p22.2
6p22.2
6p22.2
3q22.1
6q25.3
11p14.3
3q22.1
Xq24
2p14
6p22.1
3q22.1
6p22.2
22q12.3
7p14.1
18q22.2
5p12
5q14.1
6p22.2
TF
HFE
HFE
HFE
HIST1H2BJ
BTN1A1
LRRC16
SLC17A1
LRRC16
TOPBP1
WTAP
LUZP2
TF
KLHL13
Q6ZNG6
TRIM38
TF
LRRC16A
TMPRSS6
Q4KMW4
Intergenic
GHR
ARSB
SCGN
rs3811647-?
rs1800562-?
rs1800562-?
rs1800562-?
rs13194491-?
rs13194984-?
rs2274089-?
rs17270561-?
rs2274089-?
rs2718812-?
rs4516970-?
rs10500991-?
rs1867504-?
rs2430212-?
rs1457451-?
rs12216125-?
rs1799852-?
rs2274089-?
rs4820268-?
rs29880-?
rs2660917-?
rs13188386-?
rs2052550-?
rs932316-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
0.09
NR
NR
NR
NR
NR
NR
NR
3 x 10-15 (serum transferrin)
4 x 10-15 (transferrin saturation)
4 x 10-11 (serum iron)
1 x 10-10 (serum transferrin)
1 x 10-8 (transferrin saturation)
6 x 10-8 (transferrin saturation)
3 x 10-7 (serum transferrin)
5 x 10-7 (transferrin saturation)
8 x 10-7 (transferrin saturation)
1 x 10-6 (serum transferrin)
1 x 10-6 (serum ferritin)
2 x 10-6 (serum transferrin)
2 x 10-6 (serum transferrin)
2 x 10-6 (serum transferrin)
3 x 10-6 (transferrin saturation)
4 x 10-6 (transferrin saturation)
5 x 10-6 (serum transferrin)
5 x 10-6 (serum iron)
6 x 10-6 (serum iron)
7 x 10-6 (serum ferritin)
8 x 10-6 (serum ferritin)
8 x 10-6 (transferrin saturation)
8 x 10-6 (serum ferritin)
9 x 10-6 (transferrin saturation)
.46 [0.34-0.58] SD decrease
NR
.66 [0.46-0.86] SD increase
.68 [0.48-0.88] SD decrease
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
.43 [0.25-0.61] SD decrease
NR
NR
NR
NR
NR
NR
NR
Illumina
[315,887]
N
01/14/09 " Serum markers of iron status 411 family members NR 3q22.1
6q22.33
14q23.2
TF
RSPO3
Q6ZUR9
rs1830084-A
rs972275-?
rs973968-?
0.36
NR
NR
1 x 10-9 (serum transferrin)
2 x 10-6 (serum ferritin)
3 x 10-6 (transferrin saturation)
.43 [NR] SD increase
NR
NR
Affymetrix
[100,846]
N
01/14/09 Pollin
December 17, 2008
Science
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection
Triglycerides 809 individuals 698 individuals 11q23.3 APOA1, APOC3, APOA4, APOA5, DSCAML1 rs10892151-A 0.028 3 x 10-29 NR Affymetrix
[381,934]
N
01/16/09 Styrkarsdottir
December 14, 2008
Nat Genet
New sequence variants associated with bone mineral density
Bone mineral density (hip) 6,865 individuals 8,510 individuals 1p36.12
6q25.1
17q21.31
11p11.2
17q21.31
Xq21.2
2q12.1
3p22.1
Intergenic
ESR1
SOST
LRP4
C17orf53
NR
NR
NR
rs7524102-A
rs1038304-G
rs1513670-A
rs1007738-A
rs227584-T
rs2710057-T
rs6735786-C
rs10490823-G
0.82
0.47
0.37
0.77
0.73
0.67
0.64
0.46
1 x 10-16
4 x 10-10
2 x 10-8
7 x 10-7
9 x 10-7
1 x 10-6
2 x 10-6
9 x 10-6
.15 [0.11-0.18] SD decrease
.08 [0.06-0.11] SD decrease
.08 [0.05-0.10] SD decrease
.08 [0.05-0.11] SD decrease
.07 [0.04-0.10] SD decrease
.07 [0.04-0.09] SD decrease
.07 [0.04-0.09] SD decrease
.06 [0.03-0.09] SD decrease
Illumina
[305,051]
N
01/16/09 " Bone mineral density (spine) 6,865 individuals 8,510 individuals 13q14.11
6q25.1
1p36.12
12q13.13
2p16.2
2p22.2
21q11.2
RANKL
C6orf97, ESR1
Intergenic
OSX
SPTBN1
LOC344382
NR
rs9594759-T
rs6929137-A
rs6696981-G
rs10876432-A
rs11898505-G
rs4670779-T
rs1006899-A
0.62
0.30
0.86
0.73
0.68
0.32
0.84
2 x 10-17
2 x 10-10
2 x 10-8
1 x 10-7
4 x 10-6
4 x 10-6
6 x 10-6
.12 [0.09-0.15] SD decrease
.1 [0.07-0.13] SD decrease
.12 [0.08-0.16] SD decrease
.08 [0.05-0.11] SD decrease
.07 [0.04-0.10] SD decrease
.07 [0.04-0.10] SD decrease
.09 [0.05-0.13] SD decrease
Illumina
[305,051]
N
01/15/09 Thorleifsson
December 14, 2008
Nat Genet
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity
Body mass index 80,969 individuals 11,036 individuals 16q12.2
2p25.3
16q12.2
18q21.32
19q13.11
1p31.1
3q27.2
16p11.2
11p14.1
11p14.1
1q25.2
12q13.13
1p21.3
11p14.1
FTO
TMEM18
FTO
MC4R
KCTD15, CHST8
NEGR1
SFRS10, ETV5, DGKG
SH2B1, ATP2A1
BDNF
BDNF
SEC16B, RASAL2
BCDIN3D, FAIM2
NR
BDNF
rs8050136-A
rs7561317-G
rs6499640-A
rs12970134-A
rs29941-C
rs2568958-A
rs7647305-C
rs7498665-G
rs6265-G
rs925946-T
rs10913469-C
rs7138803-A
rs10783050-C
rs7481311-T
0.41
0.84
0.41
0.30
0.69
0.58
0.77
0.44
0.85
0.34
0.20
0.37
0.36
0.24
1 x 10-47
4 x 10-17
4 x 10-13
1 x 10-12
7 x 10-12
1 x 10-11
7 x 10-11
3 x 10-10
5 x 10-10
9 x 10-10
6 x 10-8
1 x 10-7
4 x 10-6
8 x 10-6
8.04 [6.96-9.12] % SD
6.12 [4.69-7.55] % SD
5.25 [3.82-6.68] % SD
4.38 [3.16-5.60] % SD
4.18 [2.98-5.38] % SD
3.77 [2.67-4.87] % SD
4.42 [3.09-5.75] % SD
3.63 [2.49-4.77] % SD
4.58 [3.07-6.09] % SD
3.85 [2.62-5.08] % SD
3.36 [2.14-4.58] % SD
3.28 [2.06-4.50] % SD
2.6 [1.50-3.70] % SD
3.15 [1.78-4.52] % SD
Illumina
[305,846]
N
01/15/09 " Weight 80,969 individuals 11,036 individuals 16q12.2
2p25.3
16q12.2
18q21.32
16p11.2
11p14.1
3q27.2
19q13.11
1q25.2
1p31.1
6p21.33
11p14.1
12q13.13
13q12.2
1p21.3
5q23.2
11p14.1
FTO
TMEM18
FTO
MC4R
SH2B1, ATP2A1
BDNF
SFRS10, ETV5, DGKG
KCTD15, CHST8
SEC16B, RASAL2
NEGR1
AIF1, NCR3
BDNF
BCDIN3D, FAIM2
NR
NR
NR
BDNF
rs8050136-A
rs7561317-G
rs6499640-A
rs12970134-A
rs7498665-G
rs925946-T
rs7647305-C
rs29941-C
rs10913469-C
rs2568958-A
rs2844479-T
rs6265-G
rs7138803-A
rs7336332-G
rs1973993-C
rs2115172-A
rs7481311-T
0.41
0.84
0.65
0.30
0.44
0.34
0.77
0.69
0.20
0.58
0.68
0.85
0.37
0.15
0.63
0.57
0.24
5 x 10-36
2 x 10-18
6 x 10-14
5 x 10-13
1 x 10-9
4 x 10-9
4 x 10-9
5 x 10-9
1 x 10-8
2 x 10-8
2 x 10-8
2 x 10-7
2 x 10-7
1 x 10-6
1 x 10-6
2 x 10-6
3 x 10-6
7.05 [5.95-8.15] % SD
6.47 [5.02-7.92] % SD
5.5 [4.07-6.93] % SD
4.66 [3.41-5.91] % SD
3.69 [2.51-4.87] % SD
3.8 [2.55-5.05] % SD
4 [2.67-5.33] % SD
3.73 [2.48-4.98] % SD
3.82 [2.51-5.13] % SD
3.37 [2.19-4.55] % SD
3.58 [2.33-4.83] % SD
4 [2.47-5.53] % SD
3.27 [2.05-4.49] % SD
4.01 [2.40-5.62] % SD
2.71 [1.61-3.81] % SD
2.71 [1.59-3.83] % SD
3.5 [2.03-4.97] % SD
Illumina
[305,846]
N
01/12/09 Willer
December 14, 2008
Nat Genet
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
Body mass index 32,387 individuals 59,092 individuals 16q12.2
2p25.3
18q21.32
4p13
16p11.2
11p11.2
19q13.11
1p31.1
11p15.4
20p12.3
15q25.2
FTO
TMEM18
MC4R
GNPDA2
SH2B1
MTCH2
KCTD15
NEGR1
STK33
BMP2
RKHD3
rs9939609-A
rs6548238-C
rs17782313-C
rs10938397-G
rs7498665-G
rs10838738-G
rs11084753-G
rs2815752-A
rs10769908-C
rs2145270-T
rs12324805-C
0.41
0.84
0.21
0.45
0.41
0.34
0.67
0.62
0.53
0.65
0.31
4 x 10-51
1 x 10-18
5 x 10-18
3 x 10-16
5 x 10-11
5 x 10-9
2 x 10-8
6 x 10-8
1 x 10-6
6 x 10-6
7 x 10-6
.33 [0.27-0.39] kg/m2 increase
.26 [0.19-0.34] kg/m2 increase
.2 [0.12-0.28] kg/m2 increase
.19 [0.13-0.25] kg/m2
.15 [0.08-0.21] kg/m2 increase
.07 [0.01-0.13] kg/m2 increase
.06 [-0.01-0.13] kg/m2 increase
.1 [0.04-0.16] kg/m2 increase
NR
NR
NR
Illumina and Affymetrix
[2,399,588] (imputed)
N
02/05/09 Mead
December 11, 2008
Lancet Neurol
Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study
Creutzfeldt-Jakob disease 117 CJD cases, 3,083 controls 506 sCJD cases, 28 iCJD cases, 151 Kuru cases, 125 Kuru-resistant cases, up to 1,137 controls 20p13
8q21.13
PRNP
STMN2
rs1799990-A
rs1460163-A
NR
NR
2 x 10-21
6 x 10-8
NR
NR
Affymetrix
[288,908]
N
01/06/09 Sullivan
December 09, 2008
Mol Psychiatry
Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo
Major depressive disorder 1,738 cases, 1,802 controls 6,079 cases, 5,893 controls NS NS NS NS NS NS Perlegen
[435,291]
N
01/12/09 Aulchenko
December 07, 2008
Nat Genet
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
Cholesterol, total 22,562 individuals NR 19p13.2
2p24.1
1p13.3
19q13.32
5q13.3
19p13.11
1p31.3
18q21.1
2p21
11q12.2
1p36.11
8q24.13
15q22.1
11q23.3
7p15.3
LDLR
APOB
CELSR2
TOMM40, APOE
HMGCR
NCAN
DOCK7
LIPG
ABCG5
FADS2, FADS3
TMEM57
TRIB1
LIPC
APOA1, APOA4, APOA5, APOC3
DNAH11
rs2228671-G
rs693-G
rs646776-G
rs2075650-G
rs3846662-G
rs2304130-G
rs10889353-C
rs4939883-G
rs6756629-G
rs174570-G
rs10903129-G
rs6987702-G
rs1532085-G
rs12272004-C
rs12670798-G
0.88
0.52
0.22
0.15
0.44
0.07
0.32
0.83
0.92
0.83
0.54
0.29
0.59
0.93
0.24
9 x 10-24
9 x 10-23
9 x 10-22
3 x 10-19
3 x 10-19
2 x 10-15
4 x 10-12
2 x 10-11
2 x 10-11
2 x 10-10
5 x 10-10
3 x 10-9
4 x 10-7
7 x 10-7
9 x 10-7
.16 [NR] SD increase
.1 [NR] SD decrease
.13 [NR] SD decrease
.14 [NR] SD increase
.09 [NR] SD increase
.15 [NR] SD decrease
.08 [NR] SD decrease
.07 [NR] SD increase
.15 [NR] SD increase
.09 [NR] SD increase
.06 [NR] SD increase
.07 [NR] SD increase
.05 [NR] SD decrease
.11 [NR] SD decrease
.06 [NR] SD increase
Illumina and Affymetrix
[up to ~600,000]
N
01/12/09 " HDL cholesterol 21,412 individuals NR 16q13
15q22.1
8p21.3
16q22.1
9q31.1
18q21.1
11p11.2
2p24.1
19q13.32
11q12.2
CETP
LIPC
LPL
CTCF, PRMT8
ABCA1
LIPG
MADD, FOLH1
APOB
TOMM40, APOE
FADS2, FADS3
rs1532624-C
rs1532085-G
rs2083637-G
rs2271293-G
rs3905000-G
rs4939883-G
rs7395662-G
rs6754295-C
rs157580-G
rs174570-G
0.57
0.59
0.26
0.87
0.86
0.83
0.61
0.25
0.33
0.83
9 x 10-94
1 x 10-35
6 x 10-18
8 x 10-16
9 x 10-13
2 x 10-11
6 x 10-11
4 x 10-8
4 x 10-7
4 x 10-6
.21 [NR] SD decrease
.13 [NR] SD decrease
.11 [NR] SD increase
.13 [NR] SD decrease
.11 [NR] SD increase
.1 [NR] SD increase
.07 [NR] SD decrease
.07 [NR] SD increase
.06 [NR] SD increase
.06 [NR] SD increase
Illumina and Affymetrix
[up to ~600,000]
N
01/12/09 " LDL cholesterol 17,797 individuals NR 1p13.3
19q13.32
2p24.1
19p13.2
11q12.2
11q23.3
5q13.3
2p21
7p15.3
19p13.11
8q24.13
1p31.3
CELSR2
TOMM40, APOE
APOB
LDLR
FADS2, FADS3
APOA1, APOA4, APOA5, APOC3
HMGCR
ABCG5
DNAH11
NCAN
TRIB1
DOCK7
rs646776-G
rs157580-G
rs693-G
rs2228671-G
rs174570-G
rs12272004-C
rs3846662-G
rs6756629-G
rs12670798-G
rs2304130-G
rs6987702-G
rs10889353-C
0.22
0.33
0.52
0.88
0.83
0.93
0.44
0.92
0.24
0.07
0.29
0.32
8 x 10-23
2 x 10-19
4 X 10-17
4 x 10-14
4 x 10-13
5 X 10-13
2 x 10-11
3 x 10-10
6 x 10-9
3 x 10-6
3 x 10-6
8 x 10-6
.16 [NR] SD decrease
.11 [NR] SD decrease
.1 [NR] SD decrease
.14 [NR] SD increase
.11 [NR] SD increase
.18 [NR] SD decrease
.08 [NR] SD increase
.16 [NR] SD increase
.09 [NR] SD increase
.12 [NR] SD decrease
.07 [NR] SD increase
.06 [NR] SD decrease
Illumina and Affymetrix
[up to 600,000]
N
01/12/09 " Triglycerides 17,815 individuals NR 2p23.3
8p21.3
11q23.3
7q11.23
1p31.3
19q13.32
2p24.1
19p13.11
GCKR
LPL
APOA1, APOA4, APOA5, APOC3
MLXIPL
DOCK7
TOMM40, APOE
APOB
NCAN
rs780094-G
rs10096633-G
rs12272004-C
rs2240466-G
rs1167998-C
rs439401-G
rs6754295-C
rs2304130-G
0.63
0.88
0.93
0.87
0.32
0.68
0.25
0.07
3 x 10-20
2 x 10-18
5 X 10-13
1 x 10-12
2 x 10-12
2 x 10-9
3 x 10-8
3 x 10-6
.1 [NR] SD decrease
.17 [NR] SD increase
.18 [NR] SD decrease
.14 [NR] SD increase
.09 [NR] SD decrease
.09 [NR] SD increase
.08 [NR] SD decrease
.1 [NR] SD decrease
Illumina and Affymetrix
[up to 600,000]
N
01/07/09 Bouatia-Naji
December 07, 2008
Nat Genet
A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk
Fasting plasma glucose 2,151 individuals 6,332 cases, 9,132 controls 11q21 MTNR1B rs1387153-T 0.29 2 x 10-36 .07 [0.05-0.08] mmol/l increase Illumina
[308,846]
N
01/12/09 Kathiresan
December 07, 2008
Nat Genet
Common variants at 30 loci contribute to polygenic dyslipidemia
HDL cholesterol 19,840 individuals Up to 20,623 individuals 16q13
8p21.3
15q22.1
18q21.1
16q22.1
11q23.3
11q12.2
12q24.11
9p22.3
20q13.2
9q31.1
20q13.12
19p13.2
1q42.13
CETP
LPL
LIPC
LIPG
LCAT
APOA1, APOC3, APOA4, APOA5
FADS1, FADS2, FADS3
MMAB,MVK
TTC39B
HNF4A
ABCA1
PLTP
ANGPTL4
GALNT2
rs173539-T
rs12678919-G
rs10468017-T
rs4939883-T
rs2271293-A
rs964184-G
rs174547-C
rs2338104-C
rs471364-C
rs1800961-T
rs1883025-T
rs7679-C
rs2967605-T
rs4846914-G
0.32
0.10
0.30
0.17
0.11
0.14
0.33
0.45
0.12
0.03
0.26
0.19
0.16
0.40
4 x 10-75
2 x 10-34
8 x 10-23
7 x 10-15
9 x 10-13
1 x 10-12
2 x 10-12
1 x 10-10
3 x 10-10
8 x 10-10
1 x 10-9
4 x 10-9
1 x 10-8
4 x 10-8
.25 [0.21-0.29] SD increase
.23 [0.17-0.29] SD increase
.1 [0.06-0.14] SD increase
.14 [0.10-0.18] SD decrease
.07 [0.01-0.13] SD increase
.17 [0.11-0.23] SD decrease
.09 [0.05-0.13] SD decrease
.07 [0.03-0.11] SD decrease
.08 [0.02-0.14] SD decrease
.19 [0.09-0.29] SD decrease
.08 [0.04-0.12] SD decrease
.07 [0.03-0.11] SD decrease
.12 [0.04-0.20] SD decrease
.05 [0.01-0.09] SD decrease
Affymetrix and Illumina
[~2,600,000] (imputed)
N
01/12/09 " LDL cholesterol 19,840 individuals Up to 20,623 individuals 1p13.3
2p24.1
19q13.32
19p13.2
2p21
5q13.3
5q33.3
20q12
12q24.31
19p13.11
1p32.3
CELSR2, PSRC1, SORT1
APOB
APOE, APOC1, APOC4, APOC2
LDLR
ABCG8
HMGCR
TIMD4, HAVCR1
MAFB
HNF1A
NCAN, CILP2, PBX4
PCSK9
rs12740374-T
rs515135-T
rs4420638-G
rs6511720-T
rs6544713-T
rs3846663-T
rs1501908-G
rs6102059-T
rs2650000-A
rs10401969-C
rs11206510-C
0.21
0.20
0.16
0.10
0.32
0.38
0.37
0.32
0.36
0.06
0.19
2 x 10-42
5 x 10-29
4 x 10-27
2 x 10-26
2 x 10-20
8 x 10-12
1 x 10-11
4 x 10-9
2 x 10-8
2 x 10-8
4 x 10-8
.23 [0.19-0.27] SD decrease
.16 [0.12-0.20] SD decrease
.29 [0.17-0.41] SD increase
.26 [0.18-0.34] SD increase
.15 [0.11-0.19] SD increase
.07 [0.03-0.11] SD increase
.07 [0.03-0.11] SD decrease
.06 [0.03-0.10] SD decrease
.07 [0.03-0.11] SD increase
.05 [-0.03-0.13] SD decrease
.09 [0.05-0.13] SD decrease
Affymetrix and Illumina
[~2,600,000] (imputed)
N
01/12/09 " Triglycerides 19,840 individuals Up to 20,623 individuals 11q23.3
8p21.3
2p23.3
8q24.13
7q11.23
11q12.2
2p24.1
19p13.11
20q13.12
8p23.1
1p31.3
APOA1, APOC3, APOA4, APOA5
LPL
GCKR
TRIB1
MLXIPL
FADS1, FADS2, FADS3
APOB
NCAN,CILP2,PBX4
PLTP
XKR6, AMAC1L2
ANGPTL3
rs964184-G
rs12678919-G
rs1260326-T
rs2954029-T
rs714052-G
rs174547-C
rs7557067-G
rs17216525-T
rs7679-C
rs7819412-G
rs10889353-C
0.14
0.10
0.45
0.44
0.12
0.33
0.22
0.07
0.19
0.48
0.33
4 x 10-62
2 x 10-41
2 x 10-31
3 x 10-19
3 x 10-15
2 x 10-14
9 x 10-12
4 x 10-11
7 x 10-11
3 x 10-8
3 x 10-7
.3 [0.24-0.36] SD increase
.25 [0.19-0.31] SD decrease
.12 [0.08-0.16] SD increase
.11 [0.07-0.15] SD decrease
.16 [0.10-0.22] SD decrease
.06 [0.02-0.10] SD increase
.08 [0.04-0.12] SD decrease
.11 [0.05-0.17] SD decrease
.07 [0.03-0.11] SD increase
.04 [0.001-0.08] SD decrease
.05 [0.01-0.09] SD decrease
Affymetrix and Illumina
[~2,600,000] (imputed)
N
01/12/09 Sabatti
December 07, 2008
Nat Genet
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
HDL cholesterol 4,763 individuals NR 16q13
15q22.1
16q22.1
11p11.2
17p13.3
CETP
LIPC
LCAT
NR1H3
Intergenic
rs3764261-A
rs1532085-A
rs255049-G
rs7120118-G
rs9891572-A
0.28
0.44
0.22
0.42
0.16
7 x 10-29
2 x 10-10
3 x 10-8
4 x 10-8
2 x 10-7
.09 [0.08-0.11] mmol/l increase
.05 [0.03-0.06] mmol/l increase
.05 [0.03-0.07] mmol/l increase
.04 [0.03-0.05] mmol/l increase
.05 [0.048-0.051] mmol/l increase
Illumina
[329,091]
N
01/12/09 " LDL cholesterol 4,763 individuals NR 1p13.3
2p24.1
19q13.32
11q12.2
19p13.2
1q32.2
Xq12
CELSR2, PSRC1, SORT1
APOB
APO cluster
FADS1, FADS2
LDLR
CR1L
AR
rs646776-G
rs693-A
rs157580-G
rs174546-A
rs11668477-G
rs4844614-A
rs5031002-A
0.21
0.41
0.29
0.44
0.18
0.32
0.02
2 x 10-12
3 x 10-11
5 x 10-8
1 x 10-7
2 x 10-7
2 x 10-7
2 x 10-7
.16 [0.11-0.20] mmol/l decrease
.12 [0.09-0.16] mmol/l increase
.11 [0.07-0.15] mmol/l decrease
.1 [0.06-0.13] mmol/l decrease
.13 [0.08-0.17] mmol/l decrease
.1 [0.06-0.14] mmol/l increase
.3 [0.18-0.41] mmol/l increase
Illumina
[329,091]
N
01/12/09 " Other metabolic traits 4,763 individuals NR 1q23.2
12q24.31
2p23.3
2q24.3
2p24.1
8p21.3
11q21
7p21.2
10q23.31
15q14
1p31.3
CRP
LEF1
GCKR
G6PC2, ABCB11
APOB
LPL
MTNR1B
Intergenic
PANK1
Intergenic
LEPR
rs2794520-A
rs2650000-A
rs1260326-A
rs560887-A
rs673548-A
rs10096633-A
rs1447352-G
rs10244051-C
rs11185790-A
rs2624265-G
rs12753193-G
0.36
0.45
0.35
0.31
0.27
0.098
0.42
0.46
0.21
0.42
0.45
3 x 10-22 (CRP)
3 x 10-11 (CRP)
4 x 10-10 (TG)
6 x 10-10 (GLU)
2 x 10-8 (TG)
5 x 10-8 (TG)
6 x 10-8 (GLU)
1 x 10-7 (GLU)
3 x 10-7 (INS)
4 x 10-7 (TG)
4 x 10-7 (CRP)
.47 [0.32-0.62] mmol/l decrease
.4 [0.25-0.55] mmol/l decrease
.09 [0.06-0.12] mmol/l increase
.06 [0.04-0.07] mmol/l decrease
.08 [0.05-0.11] mmol/l decrease
.12 [0.07-0.17] mmol/l decrease
.05 [0.03-0.06] mmol/l decrease
.05 [0.03-0.06] mmol/l increase
.31 [0.18-0.44] mmol/l decrease
.07 [0.04-0.10] mmol/l increase
.13 [-0.02-0.27] mmol/l decrease
Illumina
[329,091]
N
05/07/09 Lasky-Su
December 05, 2008
Am J Med Genet B Neuropsychiatr Genet
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations
Attention deficit hyperactivity disorder 909 trios NR 12p11.22
3p24.3
14q23.2
2q21.2
16q22.1
13q32.3
1q41
22q12.3
2q24.1
1p31.2
2p21
3p14.1
11p13
19q13.43
3p14.2
4q13.3
2q14.1
2q14.3
8q24.3
Intergenic
Intergenic
Intergenic
FLJ34870
HAS3
CLYBL
Intergenic
Intergenic
Intergenic
Intergenic
OXER1
FOXP1
Intergenic
ZNF544
FHIT
EREG
Intergenic
Intergenic
NAPRT1
rs522958-?
rs11719664-?
rs1514928-?
rs7577925-?
rs8047014-?
rs7992643-?
rs1018040-?
rs130575-?
rs1918172-?
rs4147141-?
rs930421-?
rs17651978-?
rs10767942-?
rs260461-?
rs6791644-?
rs1350666-?
rs272000-?
rs17367118-?
rs2290416-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
1 x 10-6 (binary)
2 x 10-6 (count)
3 x 10-6 (binary)
3 x 10-6 (binary)
4 x 10-6 (binary)
5 x 10-6 (count)
5 x 10-6 (binary)
5 x 10-6 (binary)
5 x 10-6 (count)
6 x 10-6 (count)
6 x 10-6 (binary)
6 x 10-6 (count)
8 x 10-6 (count)
8 x 10-6 (binary)
8 x 10-6 (count)
8 x 10-6 (binary)
9 x 10-6 (count)
9 x 10-6 (count)
9 x 10-6 (count)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Perlegen
[429,981]
N
05/07/09 " Hyperactive-impulsive symptoms 909 trios NR 12p11.22
6p22.3
2p21
8p21.3
1p13.2
15q14
21q21.3
3q26.1
9p24.3
19q13.43
1q41
3q26.1
18q22.1
6p22.3
Intergenic
Intergenic
OXER1
LPL
Intergenic
MEIS2
GRIK1
Intergenic
DMRT2
LOC390980
Intergenic
Intergenic
Intergenic
Intergenic
rs522958-?
rs41441749-?
rs6719977-?
rs7816032-?
rs11590090-?
rs8041675-?
rs363512-?
rs6808138-?
rs17641078-?
rs2014572-?
rs1018040-?
rs6808138-?
rs13353224-?
rs1202199-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
8 x 10-7 (binary)
1 x 10-6 (binary)
2 x 10-6 (binary)
2 x 10-6 (count)
3 x 10-6 (count)
4 x 10-6 (count)
4 x 10-6 (binary)
5 x 10-6 (binary)
5 x 10-6 (binary)
7 x 10-6 (count)
8 x 10-6 (binary)
8 x 10-6 (binary)
9 x 10-6 (count)
9 x 10-6 (count)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Perlegen
[429,981]
N
05/07/09 " Inattentive symptoms 909 trios NR 9q22.32
8q21.11
11q22.3
15q26.1
16q12.1
9q21.31
15q25.1
7q36.3
13q12.12
1p31.2
12q24.22
15q13.1
1p31.2
16q23.1
8p11.21
Intergenic
Intergenic
Intergenic
SLCO3A1
ZNF423
Intergenic
IL16
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
rs11790994-?
rs12679254-?
rs10895959-?
rs7495052-?
rs17281813-?
rs2769967-?
rs7172689-?
rs10227331-?
rs17079773-?
rs4650135-?
rs478597-?
rs1471225-?
rs4147141-?
rs13330107-?
rs11786458-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
2 x 10-7 (binary)
2 x 10-6 (binary)
3 x 10-6 (binary)
3 x 10-6 (binary)
3 x 10-6 (binary)
3 x 10-6 (count)
4 x 10-6 (count)
4 x 10-6 (count)
5 x 10-6 (binary)
5 x 10-6 (binary)
8 x 10-6 (binary)
8 x 10-6 (count)
8 x 10-6 (binary)
9 x 10-6 (binary)
9 x 10-6 (binary)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Perlegen
[429,981]
N
05/07/09 Lasky-Su
December 05, 2008
Am J Med Genet B Neuropsychiatr Genet
Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder (time to onset) 930 trios NR 6q15
2q36.3
7q31.1
11p15.1
3p22.3
9p23
3q29
20q13.13
14q23.1
5q35.3
8q23.3
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
SULF2
Intergenic
ADAMTS2
Intergenic
rs806276-A
rs1517484-C
rs6968385-T
rs874426-C
rs9845475-G
rs1325154-C
rs3892715-C
rs4810685-C
rs1335515-C
rs10039254-A
rs17658378-A
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
3 x 10-7 (later onset)
5 x 10-7 (earlier onset)
2 x 10-6 (earlier onset)
4 x 10-6 (earlier onset)
4 x 10-6 (later onset)
5 x 10-6 (later onset)
6 x 10-6 (earlier onset)
7 x 10-6 (earlier onset)
8 x 10-6 (earlier onset)
8 x 10-6 (later onset)
9 x 10-6 (later onset)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Perlegen
[429,981]
N
01/15/09 Timpson
December 03, 2008
Diabetes
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data
Type 2 diabetes 1,924 cases, 2,938 controls 3,757 cases, 5,346 controls 10q25.2
16q12.2
10q25.2
11p15.1
11p15.1
6p22.3
9p21.3
8q24.11
TCF7L2
FTO
TCF7L2
KCNJ11
KCNJ11
CDKAL
CDKN2B
SLC30A8
rs7903146-?
rs8050136-?
rs7903146-?
rs5219-?
rs5219-?
rs10946398-?
rs10811661-?
rs13266634-?
NR
NR
NR
NR
NR
NR
NR
NR
9 x 10-30 (non-obese)
2 x 10-17 (obese)
6 x 10-16 (obese)
1 x 10-9 (non-obese)
5 x 10-7 (obese)
7 x 10-7 (non-obese)
7 x 10-7 (non-obese)
7 x 10-6 (non-obese)
1.49 [1.39-1.59]
1.3 [1.23-1.39]
1.31 [1.23-1.40]
1.25 [1.16-1.34]
1.19 [1.11-1.27]
1.18 [1.11-1.26]
1.26 [1.15-1.38]
1.18 [1.10-1.27]
Affymetrix
[393,453]
N
01/12/09 Friedman
December 01, 2008
Hum Mol Genet
grm7 variants confer susceptibility to age-related hearing impairment
Hearing impairment 846 cases, 846 controls 63 cases, 67 controls NS NS NS NS NS NS Affymetrix
[506,627] (pooled)
N
02/26/09 Prokopenko
December 01, 2008
Nat Genet
Variants in MTNR1B influence fasting glucose levels
Fasting plasma glucose 35,812 individuals NR 2q24.3
11q21
7p13
G6PC2
MTNR1B
GCK
rs560887-C
rs10830963-G
rs4607517-A
0.70
0.28
0.18
1 x 10-57
3 x 10-50
1 x 10-25
.06 [0.05-0.07] mmol/l increase
.07 [0.06-0.08] mmol/l increase
.06 [0.05-0.07] mmol/l increase
Affymetrix, Illumina and Perlegen
[up to 2,557,249] (imputed)
N
12/24/08 Gieger
November 28, 2008
PLoS Genet
Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum
Serum metabolites 284 males NR 2p14
10p11.21
11q12.2
13q31.3
15q22.1
3p25.3
6q25.1
6q26
15q26.1
4q13.1
7q31.1
12q24.21
6q12
3q28
16p13.2
3q22.3
PLEK
ANKRD30A
FADS1
GPC5
LIPC
ATP2B2
C6orf71
PARK2
SV2B
Intergenic
Intergenic
Intergenic
Intergenic
FGF12
A2BP1
Intergenic
rs9309413-?
rs1148259-?
rs174548-?
rs17267292-?
rs4775041-?
rs6807064-?
rs1591830-?
rs992037-?
rs886144-?
rs10517480-?
rs10953730-?
rs2194980-?
rs9354308-?
rs4453795-?
rs9924951-?
rs1382269-?
0.45
0.42
0.28
0.28
0.28
0.29
0.32
0.35
0.38
0.31
0.35
0.33
0.37
0.41
0.41
0.47
2 x 10-9 (SM)
3 x 10-9 (SM)
5 x 10-8 (PC)
1 x 10-7 (Docosahexaonic acid)
1 x 10-7 (PE)
1 x 10-7 (phenylalanine)
1 x 10-7 (sugar)
1 x 10-7 (Lysine)
2 x 10-7 (SM)
2 x 10-7 (PC)
2 x 10-7 (acylcarnitine)
3 x 10-7 (Tyrosine)
3 x 10-7 (serotonin)
4 x 10-7 (PC)
5 x 10-7 (PC)
5 x 10-7 (SM)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[187,454]
N
12/09/08 Terracciano
November 24, 2008
Mol Psychiatry
Genome-wide association scan for five major dimensions of personality
Personality dimensions 3,972 individuals 3,903 individuals 19q13.31
4q12
2p22.1
Xp11.3
19q13.31
ZNF180
CLOCK
THUMPD2
FUNDC1
ZNF180
rs644148-G
rs6832769-A
rs2540226-T
rs6610953-G
rs644148-G
0.50
0.73
0.53
0.85
0.50
9 x 10-7 (openness)
2 x 10-6 (agreeableness)
3 x 10-6 (agreeableness)
6 x 10-6 (openness)
8 x 10-6 (extraversion)
.15 [NR] SD increase
.14 [NR] SD decrease
.13 [NR] SD increase
.15 [NR] SD increase
.14 [NR] SD increase
Affymetrix
[362,129]
N
01/07/09 Lei
November 23, 2008
Hum Genet
Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci
Height 618 Chinese individuals 2,953 Chinese individuals 9q22.23 ZNP510 rs10816533-C 0.29 2 x 10-6 NR Affymetrix
[281,533]
N
01/06/09 Potkin
November 20, 2008
Schizophr Bull
A Genome-Wide Association Study of Schizophrenia Using Brain Activation as a Quantitative Phenotype
Brain imaging in schizophrenia (interaction) 64 cases, 74 cases NR 5q23.2
2q37.3
3p12.3
14q32.32
3q26.2
6q16.2
CTXN3, SLC12A2
GPC1
ROBO2, ROBO1
TRAF3
TNIK
POU3F2
rs245201-?
rs1574192-?
rs9836484-?
rs10133111-?
rs2088885-?
rs9491640-?
0.32
0.38
0.32
0.20
0.47
0.06
9 x 10-8
4 x 10-6
4 x 10-6
5 x 10-6
6 x 10-6
9 x 10-6
NR
NR
NR
NR
NR
NR
Illumina
[302,783]
N
12/01/08 COGENT Study
November 16, 2008
Nat Genet
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
Colorectal cancer 1,902 cases, 1,929 controls 4,878 cases, 4,914 controls 20p12.3
14q22.2
19q13.11
16q22.1
Intergenic
BMP4
RHPN2
CDH1
rs961253-A
rs4444235-C
rs10411210-C
rs9929218-A
0.36
0.46
0.90
0.29
2 x 10-10
8 x 10-10
5 x 10-9
1 x 10-8
1.12 [1.08-1.16]
1.11 [1.08-1.15]
1.15 [1.10-1.20]
1.1 [1.06-1.12]
Illumina
[up to 548,586]
N
01/16/09 Baranzini
November 14, 2008
Hum Mol Genet
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis
Brain lesion load 791 cases, 883 controls NR 2q37.1
14q12
19p13.11
6q25.3
CHRND
NUBPL
CPAMD8
IGF2R
rs2602397-?
rs2039485-?
rs11666377-?
rs6917747-?
0.45
0.22
0.14
0.15
4 x 10-6
6 x 10-6
7 x 10-6
7 x 10-6
NR
NR
NR
NR
Illumina
[551,642]
N
01/16/09 " Multiple sclerosis 978 cases, 883 controls NR 20p13
13q31.3
12q12
8p23.2
3q23
9p22.2
2q14.2
3q24
4q35.1
2p25.1
C20orf46
GPC5
PDZRN4
CSMD1
SLC25A36
SH3GL2
EN1
ZIC1
MGC45800
DDEF2
rs397020-?
rs9523762-?
rs1458175-?
rs1529316-?
rs908821-?
rs1755289-?
rs651477-?
rs1841770-?
rs7672826-?
rs1109670-?
0.52
0.35
0.49
0.47
0.71
0.61
0.26
0.53
0.34
0.26
8 x 10-7
1 x 10-6
2 x 10-6
2 x 10-6
3 x 10-6
3 x 10-6
7 x 10-6
8 x 10-6
8 x 10-6
9 x 10-6
1.41 [NR]
1.36 [NR]
1.34 [NR]
1.36 [NR]
1.37 [NR]
1.35 [NR]
1.38 [NR]
1.34 [NR]
1.37 [NR]
1.38 [NR]
Illumina
[551,642]
N
01/16/09 " Multiple sclerosis (age of onset) 978 cases, 883 controls NR 11q14.2
7q22.1
8q13.3
18q21.31
9q21.13
1q25.2
5q33.2
2q21.2
RAB38
RELN
KCNB2
WDR7
RFK
C1orf125
SGCD
FLJ34870
rs1386330-?
rs17157903-?
rs2116078-?
rs1557351-?
rs2842483-?
rs12047808-?
rs4704970-?
rs1437898-?
0.13
0.14
0.48
0.22
0.29
0.13
0.20
0.40
2 x 10-6
3 x 10-6
3 x 10-6
4 x 10-6
5 x 10-6
6 x 10-6
7 x 10-6
8 x 10-6
NR
NR
NR
NR
NR
NR
NR
NR
Illumina
[551,642]
N
01/16/09 " Multiple sclerosis (severity) 794 cases, 883 controls NR 3q25.32
4q28.3
19q13.42
4q13.2
7p21.3
11q23.3
16q22.3
6p23
7q31.2
18q22.3
19p13.2
FLJ16641
LOC132321
NLRP11
CENPC1
C1GALT1
MGC13125
C16orf47
JARID2
MET
CBLN2
ACP5
rs12638253-?
rs1478091-?
rs299175-?
rs10518025-?
rs10259085-?
rs180358-?
rs7191888-?
rs6941421-?
rs10243024-?
rs337718-?
rs7253363-?
0.47
0.06
0.46
0.14
0.46
0.23
0.17
0.24
0.23
0.29
0.05
2 x 10-6
2 x 10-6
4 x 10-6
4 x 10-6
4 x 10-6
6 x 10-6
6 x 10-6
6 x 10-6
6 x 10-6
9 x 10-6
9 x 10-6
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Illumina
[551,642]
N
01/16/09 " Normalized brain volume 753 cases, 883 controls NR 12p11.21
6q21
10p11.23
10q25.2
5q35.1
BICD1
FOXO3
SVIL
MXI1
KCNIP1
rs261902-?
rs9480865-?
rs1927457-?
rs716595-?
rs11957313-?
0.16
0.16
0.31
0.08
0.13
4 x 10-6
7 x 10-6
8 x 10-6
8 x 10-6
9 x 10-6
NR
NR
NR
NR
NR
Illumina
[551,642]
N
12/09/08 Aulchenko
November 09, 2008
Nat Genet
Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis
Multiple sclerosis 45 cases, 195 controls 2,634 cases, 2,930 controls 1p36.22 KIF1B rs10492972-C 0.27 3 x 10-10 1.34 [1.23-1.48] Affymetrix
[~250,000]
N
12/01/08 Bilguvar
November 09, 2008
Nat Genet
Susceptibility loci for intracranial aneurysm in European and Japanese populations
Intracranial aneurysm 1,580 European cases, 6,276 European controls 495 Japanese cases, 676 Japanese controls 8q11.23
9q21.3
8q11.23-q12.1
2q33.1
SOX17
CDKN2A, CDKN2B
SOX17
BOLL, PLCL1
rs10958409-A
rs1333040-T
rs9298506-A
rs700651-G
0.15
0.55
0.81
0.35
1 x 10-10
1 x 10-10
2 x 10-9
4 x 10-8
1.36 [1.24-1.49]
1.29 [1.19-1.40]
1.35 [1.22-1.49]
1.24 [1.15-1.34]
Illumina
[289,271]
N
12/30/08 Drgon
November 09, 2008
Mol Med
Genome wide association for nicotine dependence and smoking cessation success in NIH research volunteers
Nicotine dependence 220 cases, 260 controls 2,271 cases, 1,868 controls NS NS NS NS NS NS Affymetrix
[~600,00] (pooled)
N
12/09/08 Pankratz
November 06, 2008
Nat Genet
Genomewide association study for susceptibility genes contributing to familial Parkinson disease
Parkinson's disease (familial) 857 cases, 867 controls 262 cases, 260 controls 4p16.3 GAK, DGKQ rs1564282-T 0.09 7 x 10-7 1.7 [NR] Illumina
[328,189]
N
12/09/08 Cronin
November 05, 2008
Eur J Hum Genet
Screening for replication of genome-wide SNP associations in sporadic AL
Amyotrophic lateral sclerosis 958 cases, 932 controls 309 cases, 404 controls 7q36.2 DPP6 rs10260404-C 0.35 3 x 10-6 1.37 [1.20-1.56] Illumina
[287,522]
N
12/01/08 Neale
November 03, 2008
Am J Med Genet B Neuropsychiatr Genet
Genome-wide association scan of attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 909 trios NR NS NS NS NS NS NS Perlegen
[438,784]
N
11/25/08 Cooper
November 02, 2008
Nat Genet
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
Type 1 diabetes 3,561 cases, 4,646 controls 6,225 cases, 6,946 controls, 3,064 trios 6p21.32
1p13.2
12q24.13
12q13.2
15q25.1
16p13.13
6q15
2q33.2
10p15.1
22q13.1
18p11.21
10p15.1
16p13.13
2p23.3
HLA
PTPN22
C12orf30
ERBB3
CTSH
CLEC16A
BACH2
CTLA4
PRKCQ
C1QTNF6
PTPN2
IL2RA
C16orf75, PRM3, TNP2
Intergenic
rs9272346-G
rs6679677-A
rs17696736-G
rs2292239-A
rs3825932-C
rs12708716-G
rs11755527-G
rs3087243-A
rs947474-G
rs229541-T
rs2542151-C
rs12251307-T
rs416603-T
rs2165738-C
NR
NR
NR
NR
0.32
NR
0.47
NR
0.19
0.43
NR
NR
0.44
0.27
6 x 10-129
1 x 10-40
6 x 10-18
3 x 10-16
3 x 10-15
7 x 10-13
5 x 10-12
8 x 10-11
4 x 10-9
2 x 10-8
9 x 10-8
2 x 10-6
3 x 10-6
4 x 10-6
NR
NR
NR
NR
1.16 [1.10-1.22]
NR
1.13 [1.08-1.19]
NR
1.1 [1.03-1.18]
1.04 [0.97-1.12]
NR
NR
1.06 [1.01-1.12]
1.07 [1.01-1.13]
Affymetrix
[up to 335,565]
N
12/09/08 McKay
November 02, 2008
Nat Genet
Lung cancer susceptibility locus at 5p15.33
Lung cancer 2,971 cases, 3,746 controls 2,899 cases, 5,573 controls 15q25.1
5p15.33
Intergenic
TERT, CLPTM1
rs1051730-A
rs402710-C
NR
NR
1 x 10-15
4 x 10-6
1.35 [1.25-1.45]
1.18 [1.12-1.24]
Illumina
[315,194]
N
11/25/08 Wang
November 02, 2008
Nat Genet
Common 5p15.33 and 6p21.33 variants influence lung cancer risk
Lung cancer 1,952 cases, 1,438 controls 7,579 cases, 8,236 controls 15q25.1
6p21.33
5p15.33
NR
BAT3,MSH5
CLPTM1L
rs8042374-?
rs3117582-C
rs401681-G
NR
NR
NR
8 x 10-12
5 x 10-10
8 x 10-9
NR
1.24 [1.16-1.33]
1.15 [1.09-1.19]
Illumina
[223,891]
N
12/09/08 Bertram
October 29, 2008
Am J Hum Genet
Genome-wide Association Analysis Reveals Putative Alzheimer's Disease Susceptibility Loci in Addition to APOE
Alzheimer's disease 941 affected individuals, 404 unaffected individuals 1,767 affected individuals, 838 unaffected individuals 14q31.2
19q13.33
Intergenic
CD33
rs11159647-?
rs3826656-?
NR
NR
2 x 10-6
6 x 10-6
NR
NR
Affymetrix
[484,522]
N
12/09/08 Anney
October 24, 2008
Am J Med Genet B Neuropsychiatr Genet
Conduct disorder and ADHD: Evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study
Attention deficit hyperactivity disorder and conduct disorder 938 affected trios NR 13q33.3
21q21.1
4q13.3
12q21.2
15q26.2
1q42.13
2p22.3
11q24.2
14q12
7q31.1
8q22.3
16q21
18q21.31
9p24.1
12q15
16q22.3
16q23.2
2p12
1q23.1
2q33.1
5q31.1
10p14
10p15.2
13q12.2
1p35.2
1q25.3
LIG4, ABHD13
Intergenic
AMOTL1, CWC15, JMJD2D
PAWR
SPATA8
LOC729257
Intergenic
KIRREL3
Intergenic
FLJ31818, GPR85
YWHAZ
Intergenic
ATP8B1
PTPRD
C12orf28
PKD1L3, KIAA0174, DHODH
PKD1L2, C16orf46
Intergenic
ETV3L, ETV3
FLJ39061, FZD7
C5orf15
A2BP1
PITRM1
GSX1, PDX1
Intergenic
RGL1, GLT25D2
rs10492664-C
rs2826340-T
rs10831284-G
rs7297018-A
rs4533251-T
rs701157-C
rs6733379-G
rs1557488-T
rs1951082-T
rs10229603-C
rs931812-C
rs1381102-A
rs7236632-A
rs10815798-A
rs789560-G
rs16973500-C
rs4889240-T
rs7595103-A
rs6427356-G
rs1521882-A
rs1644305-A
rs1291846-T
rs2764980-A
rs9512900-C
rs2180233-C
rs10797919-G
0.84
0.17
0.13
0.19
0.15
0.45
0.28
0.18
0.43
0.31
0.74
0.40
0.86
0.48
0.87
0.86
0.45
0.64
0.28
0.82
0.41
0.19
0.51
0.37
0.31
0.59
1 x 10-6
2 X 10-6
2 x 10-6
4 x 10-6
4 x 10-6
4 x 10-6
4 x 10-6
5 x 10-6
5 x 10-6
5 x 10-6
5 x 10-6
6 x 10-6
6 x 10-6
6 x 10-6
7 x 10-6
7 x 10-6
7 x 10-6
7 x 10-6
8 x 10-6
8 x 10-6
8 x 10-6
9 x 10-6
9 x 10-6
9 x 10-6
9 x 10-6
9 x 10-6
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Perlegen
[378,332]
N
12/01/08 Johansson
October 24, 2008
Hum Mol Genet
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis
Height 3,925 individuals 38,091 individuals 7p15.1 JAZF1 rs1635852-A NR 9 x 10-10 .25 [0.17-0.33] cm taller Illumina
[NR]
N
12/09/08 Comabella
October 22, 2008
PLoS ONE
Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms
Multiple sclerosis 242 cases, 242 controls 375 cases, 375 controls 6p21.32 HLA-DRB1 rs3129934-T NR 9 x 10-11 3.3 [2.3-4.9] Affymetrix
[428,867] (pooled)
N
11/25/08 Hillmer
October 12, 2008
Nat Genet
Susceptibility variants for male-pattern baldness on chromosome 20p11
Male-pattern baldness 296 cases, 347 controls 319 cases, 234 controls 20p11.22 PAX1, BQ013595, BE789145 rs2180439-C 0.43 3 x 10-15 1.82 [1.45-2.30] Illumina
[531,695]
N
11/25/08 Richards
October 12, 2008
Nat Genet
Male-pattern baldness susceptibility locus at 20p11
Male-pattern baldness 578 cases, 547 controls 1,351 cases, 2,485 controls 20p11.22
Xq12
PAX1
AR
rs1160312-A
rs6625163-A
0.43
NR
1 x 10-14 (males)
5 x 10-11
1.6 [1.42-1.80] (males)
3.3 [2.31-4.71]
Affymetrix
[370,102]
N
11/25/08 Stacey
October 12, 2008
Nat Genet
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
Basal cell carcinoma (cutaneous) 930 cases, 33,117 controls 1,216 cases, 2,844 controls 1p36.13
1q42.13
PADI4, PADI6,RCC2, ARHGEF10L
RHOU
rs7538876-A
rs801114-G
0.35
0.33
4 x 10-12
6 x 10-12
1.28 [1.19-1.37]
1.28 [1.19-1.37]
Illumina
[304,083]
N
12/01/08 Yuan
October 10, 2008
Am J Hum Genet
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes
Plasma levels of liver enzymes 7,751 European white individuals 4,704 European white and Indian Asian individua 9p34.2
9q34.2
22q13.31
1p36.12
6p22.2
22q11.23
12q24.2
10q24.31
10q21.2
10q24.2q
10q21.3
ABO
ADAMTS13
PNPLA3, SAMM50
NBPF3, ALPL, RAP1GAP
GPLD1
GGT1, C22orf36
HNF1A, C12orf27, C12orf43
JMJD1C
REEP3
CPN1, CHUK, ERLIN1
POU2F1
rs657152-T
rs4962153-A
rs2281135-T
rs1780324-T
rs9467160-A
rs4820599-G
rs1169313-C
rs12355784-A
rs10761779-G
rs11597390-A
rs9803659-C
0.39
NR
0.18
0.43
0.24
0.31
0.38
0.48
0.49
0.36
NR
2 x 10-30 (ALP)
8 x 10-21 (ALP)
8 x 10-16 (ALT)
7 x 10-15 (ALP)
1 x 10-11 (ALP)
4 x 10-11 (GGT)
2 x 10-10 (GGT)
5 x 10-10 (ALP)
7 x 10-10 (ALP)
2 x 10-8 (ALT)
4 x 10-6 (ALT)
.05 [0.039-0.055] U/L decrease
.06 [0.048-0.072] U/L decrease
.06 [0.046-0.074] U/L increase
.03 [0.023-0.039] U/L increase
.03 [0.024-0.044] U/L increase
.01 [0.005-0.009] U/L increase
.01 [0.003-0.007] U/L decrease
.03 [0.017-0.033] U/L increase
.03 [0.017-0.033] U/L increase
.04 [0.025-0.053] U/L decrease
.03 [0.018-0.042] U/L decrease
Affymetrix and Illumina
[up to 496,032]
N
11/25/08 Grant
October 07, 2008
Diabetes
Follow up analysis of genome-wide association data identifies novel loci for type 1 diabetes
Type 1 diabetes 563 cases, 1,146 controls, 483 case-parents trios 636 families, 3,303 cases, 4,673 controls 21q22.3
6q15
1p22.3
9p24.2
15q14
UBASH3A
BACH2
EDG7
GLIS3
RASGRP1
rs9976767-C
rs3757247-A
rs1983853-?
rs10758593-A
rs8035957-C
NR
NR
NR
NR
NR
2 x 10-8
1 x 10-6
2 x 10-6
3 x 10-6
4 x 10-6
1.16 [1.10-1.22]
1.13 [1.08-1.19]
1.2 [1.11-1.29]
1.13 [1.07-1.19]
1.14 [1.08-1.21]
Illumina
[up to 1,000,000]
N
05/07/09 Lesch
October 07, 2008
J Neural Transm
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies
Attention deficit hyperactivity disorder 343 cases, 304 controls NR 13q31.3
3p22.1
9q34.13
15q23
17p13.2
9q33.1
2q14.2
1p35.1
15q26.1
16q24.1
15q26.1
10q24.1
5q13.2
9q34.11
6p21.1
10q22.1
10q25.1
20q11.22
12q23.3
6p21.1
7p15.1
22q11.22
16q23.3
2p25.3
2q33.3
5q22.2
GPC6
MOBP
C9orf98
ITGA11
ITGAE
ASTN2
MGC33657
CSMD2
AK094352
ATP2C2
MAN2A2
TLL2
MAP1B
DNM1
TFEB
UNC5B
C10orf79
MMP24
NT5DC3
SUPT3H
CREB5
PPM1F
CDH13
MYT1L
CRYGC
REEP5
rs7995215-?
rs864643-?
rs11243897-?
rs7164335-?
rs220470-?
rs10983238-?
rs2587695-?
rs2281597-?
rs7175404-?
rs10514604-?
rs2677744-?
rs10786284-?
rs2199161-?
rs2502731-?
rs2842643-?
rs16928529-?
rs515910-?
rs1555322-?
rs4964805-?
rs3799977-?
rs2237349-?
rs412050-?
rs11646411-?
rs2241685-?
rs2242073-?
rs469727-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
1 x 10-8
1 x 10-8
6 x 10-8
1 x 10-7
1 x 10-7
1 x 10-7
3 x 10-7
5 x 10-7
6 x 10-7
8 x 10-7
1 x 10-6
2 x 10-6
2 x 10-6
2 x 10-6
3 x 10-6
4 x 10-6
4 x 10-6
4 x 10-6
5 x 10-6
5 x 10-6
5 x 10-6
6 x 10-6
7 x 10-6
8 x 10-6
8 x 10-6
8 x 10-6
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[504,219](pooled)
N
12/09/08 Sonuga-Barke
October 07, 2008
Am J Med Genet B Neuropsychiatr Genet
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan
Conduct disorder (interaction) 909 trios NR 5q21.1
16p13.3
4q23
2p21
10q22.3
3p25.3
8p23.1
15q26.2
18q12.3
1q22
4q22.1
17q22
2p22.2
11q23.2
6p15
Intergenic
A2BP1
ADH1C
Intergenic
Intergenic
SLC6A1
MFHAS1
Intergenic
Intergenic
RIT1
PPM1K
Intergenic
Intergenic
ZBTB16
Intergenic
rs13188771-A
rs6500744-C
rs1789891-A
rs719593-T
rs2395528-T
rs9990174-T
rs332034-A
rs4321143-G
rs17664267-T
rs2282301-A
rs893971-T
rs8073783-C
rs604381-A
rs17116334-T
rs16880441-G
0.17
0.53
0.14
0.86
0.23
0.33
0.85
0.28
0.19
0.23
0.60
0.49
0.32
0.16
0.08
2 x 10-6 (int, MW)
3 x 10-6 (int, MW)
3 x 10-6 (int, MW)
5 x 10-6 (int, MC)
6 x 10-6 (int, MW)
6 x 10-6 (int, MW)
6 x 10-6 (int, MW)
7 x 10-6 (int, MC)
7 x 10-6 (int, MW)
7 x 10-6 (int, MW)
7 x 10-6 (int, MC)
8 x 10-6 (int, MW)
8 x 10-6 (int, MW)
9 x 10-6 (int, MC)
9 x 10-6 (int, MC)
4.24 [NR] unit decrease
.91 [NR] unit increase
1.47 [NR] unit increase
2.05 [NR] unit decrease
1.46 [NR] unit decrease
2.52 [NR] unit decrease
1.05 [NR] unit increase
1.13 [NR] unit increase
1.39 [NR] unit increase
2.88 [NR] unit increase
1.15 [NR] unit decrease
1.76 [NR] unit decrease
1.26 [NR] unit increase
1.3 [NR] unit increase
1.63 [NR] unit increase
Perlegen
[429,901)
N
12/09/08 " Attention deficit hyperactivity disorder symptoms (interaction) 909 trios NR 11q21
13q12.3
6p21.2
14q24.3
21q21.1
3q27.2
8p23.2
PIWIL4
Intergenic
KIF6
Intergenic
Intergenic
Intergenic
Intergenic
rs2212361-C
rs1161463-C
rs4714261-T
rs2360997-C
rs2825388-A
rs10049246-G
rs4875598-G
0.26
0.79
0.17
0.86
0.40
0.59
0.34
9 x 10-7 (int, MW)
2 x 10-6 (int, MW)
2 x 10-6 (int, MW)
8 x 10-6 (int, MW)
8 x 10-6 (int, MC)
8 x 10-6 (int, MW)
9 x 10-6 (int, MW)
.97 [NR] unit decrease
1.72 [NR] unit decrease
.95 [NR] unit increase
1.3 [NR] unit decrease
1.06 [NR] unit increase
.6 [NR] unit increase
.94 [NR] unit decrease
Perlegen
[429,981]
N
11/25/08 Franke
October 05, 2008
Nat Genet
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility
Ulcerative colitis 1,167 cases, 777 controls 1,855 cases, 3,091 controls 6p21.32
1q32.1
HLA-DRA, BTNL2
IL10
rs9268877-T
rs3024505-T
0.45
0.15
6 x 10-18
1 x 10-12
1.45 [1.33-1.58]
1.46 [1.31-1.62]
Affymetrix
[355,262]
N
10/14/09 Chasman
October 01, 2008
Circ Cardiovasc Genet
Genetic loci associated with plasma concentration of LDL-C, HDL-C, triglycerides, ApoA1, and ApoB among 6382 Caucasian women in genome-wide analysis with replication
Lipid traits 6,382 Caucasian women 970 Caucasian individuals NS NS NS NS NS NS Illumina
[314,518]
N
11/25/08 Dehghan
October 01, 2008
Lancet
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study
Serum urate 11,847 individuals 14,867 individuals 4p16.1
4q22.1
6p22.2
SLC2A9
ABCG2
SLC17A3
rs16890979-T
rs2231142-?
rs1165205-?
0.23
0.11
0.47
7 x 10-168 (whites)
3 x 10-60 (whites)
4 x 10-29 (whites)
.34 [0.30-0.38] SD decrease in serum uric acid level
.24 [0.20-0.28] SD increase in serum uric acid level
.09 [0.07-0.11] SD decrease in serum uric acid level
Affymetrix and Illumina
[up to 530,683]
N
12/09/08 Gretarsdottir
October 01, 2008
Ann Neurol
Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke
Ischemic stroke 1,661 cases, 10,815 controls 4,576 cases, 19,343 controls 4q25 NR rs2200733-T 0.11 2 x 10-10 1.26 [1.17-1.35] Illumina
[310,881]
N
11/25/08 Mushiroda
October 01, 2008
J Med Genet
A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis
Idiopathic pulmonary fibrosis 159 Japanese cases, 934 Japanese controls 83 Japanese cases, 535 Japanese controls 5p15.33 TERT rs2736100-A 0.41 3 x 10-8 2.11 [1.61-2.78] Illumina
[214,508]
N
11/25/08 Abraham
September 29, 2008
BMC Med Genomics
A genome-wide association study for late-onset Alzheimer's disease using DNA pooling
Alzheimer's disease 1,082 cases, 1,239 controls 1,400 additional controls 19q13.32
22q13.33
PVRL2, TOMM40, APOE
CPT1B
rs6859-A
rs727153-C
NR
0.17
6 x 10-14
3 x 10-6
NR
1.63 [1.37-1.95]
Illumina
[561,494] (pooled)
N
11/25/08 Miyagawa
September 28, 2008
Nat Genet
Variant between CPT1B and CHKB associated with susceptibility to narcolepsy
Narcolepsy 222 Japanese cases, 389 Japanese controls 748 cases, 994 controls 22q13.33 CPT1B rs5770917-C 0.17 6 x 10-8 1.63 [1.37-1.95] Affymetrix
[249,133]
N
11/25/08 Mick
September 26, 2008
Am J Med Genet B Neuropsychiatr Genet
Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder
Attention deficit hyperactivity disorder 187 children NR 22q13.31
5p15.31
Intergenic
Intergenic
rs9627183-C
rs11134178-T
0.03
0.05
3 x 10-6
3 x 10-6
NR
NR
Affymetrix
[319,722]
N
12/09/08 Burkhardt
September 18, 2008
Arterioscler Thromb Vasc Biol
Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13
LDL cholesterol 2,346 Micronesian individuals 1,464 European white cases, 1,467 European white controls 5q13.3
19q13.32
HMGCR
APOE, APOC1, APOC4, APOC2
rs7703051-A
rs4420638-?
0.41
NR
1 x 10-8
2 x 10-7
18 [NR] % SD increase
NR
Affymetrix
[~500,000]
N
11/25/08 Liu
September 17, 2008
J Natl Cancer Inst
Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer
Lung cancer 194 cases, 219 controls 3,878 cases, 4,831 controls 15q25.1 LOC123688, PSMA4, CHRNA3, CHRNA5, CHRNB4 rs8034191-G NR 1 x 10-8 1.38 [1.17-1.64] Affymetrix
[up to 722,376]
N
11/25/08 Kiemeney
September 14, 2008
Nat Genet
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer
Urinary bladder cancer 1,803 cases, 34,336 controls 2,165 cases, 3,800 controls 8q24.21
3q28
MYC, BC042052
TP63
rs9642880-T
rs710521-A
0.45
0.73
9 x 10-12
1 x 10-7
1.22 [1.15-1.29]
1.19 [1.12-1.27]
Illumina
[302,140]
N
11/25/08 Raychaudhuri
September 14, 2008
Nat Genet
Common variants at CD40 and other loci confer risk of rheumatoid arthritis
Rheumatoid arthritis 3,393 cases, 12,460 controls 3,929 cases, 5,807 controls 6p21.32
1p13.2
6q23.3
20q13.12
9p13.3
12q13.3
1p36.32
10p15.1
7q21.2
HLA-DRB1
PTPN22
OLIG3, TNFIP3
CD40
CCL21
KIF5A-PIP4K2C
MMEL1-TNFRSF14
PRKCQ
CDK6
rs6457620-?
rs6679677-?
rs6920220-?
rs4810485-G
rs2812378-G
rs1678542-C
rs3890745-T
rs4750316-G
rs42041-G
0.50
0.10
0.22
0.25
0.34
0.37
0.33
0.20
0.24
4x10-186
6 x 10-42
2 x 10-9
8 x 10-9
3 x 10-8
9 x 10-8
1 x 10-7
4 x 10-6
4 x 10-6
2.55 [2.40-2.71]
1.79 [1.65-1.94]
1.24 [1.16-1.32]
1.15 [NR]
1.12 [NR]
1.12 [NR]
1.12 [NR]
1.14 [NR]
1.11 [NR]
Illumina
[818,728] Affymetrix
[~340,000] (imputed)
N
11/25/08 Huyghe
September 12, 2008
Am J Hum Genet
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait
Hearing impairment 1,081 individuals NR NS NS NS NS NS NS Affymetrix
[169,154]
N
11/25/08 Liu
September 08, 2008
PLoS ONE
Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study
Hip bone size 501 women, 499 men 1,216 women 2q33.1 PLCL1 rs7595412-A 0.89 2 x 10-6 5 [NR] cm2 increase in hip bone size on women Affymetrix
[306,823]
N
11/25/08 Hazra
September 07, 2008
Nat Genet
Common variants of FUT2 are associated with plasma vitamin B12 levels
Plasma level of vitamin B12 1,658 women 1,059 women 19q13.3 FUT2 rs492602-G 0.49 5 x 10-17 .09 [0.07-0.11] pg/ml decrease Illumina
[528,134]
N
11/25/08 McArdle
September 01, 2008
Arthritis Rheum
Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish
Serum uric acid 408 women, 460 men NR 4p16.1
13q33.1
2q31.1
13q14.11
3p24.3
20p12.3
5q31.3
GLUT9, WDR1
NR
NR
NR
NR
NR
NR
rs16890979-?
rs4771450-?
rs4668338-?
rs17065323-?
rs6442522-?
rs6085920-?
rs3776331-?
NR
NR
NR
NR
NR
NR
NR
1 x 10-11
2 x 10-6
3 x 10-6
4 x 10-6
5 x 10-6
6 x 10-6
8 x 10-6
.44 [0.32-0.56] mg/dl decrease in uric serum levels
.23 [NR] mg/dl decrease in uric acid levels
4.29 [NR] mg/dl decrease in uric acid levels
4.29 [NR] mg/dl decrease in uric acid levels
.05 [NR] mg/dl increase in uric acid levels
.4 [NR] mg/dl decrease in uric acid levels
.3 [NR] mg/dl increase in uric acid levels
Affymetrix
[361,034]
N
11/25/08 van den Oord
September 01, 2008
Arch Gen Psychiatry
Genomewide Association Analysis Followed by a Replication Study Implicates a Novel Candidate Gene for Neuroticism
Neuroticism 1,227 individuals 1,880 individuals 14q21.3
8q24.23
7p21.3
MAMDC1
AK127771
NXPH1
rs12883384-?
rs2705293-?
rs2349775-?
NR
NR
NR
7 x 10-7
6 x 10-6
7 x 10-6
NR
NR
NR
Affymetrix
[420,287]
N
11/25/08 Di Bernardo
August 31, 2008
Nat Genet
A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia
Chronic lymphocytic leukemia 505 cases, 1,438 controls 1,024 cases, 1,677 controls 6p25.3
11q24.1
15q23
2q13
2q37.1
19q13.32
IRF4
GRAMD1B
Intergenic
ACOXL,BCL2L11
SP140, SP110
PRKD2,STRN4
rs872071-G
rs735665-A
rs7176508-A
rs17483466-G
rs13397985-G
rs11083846-A
0.54
0.21
0.37
0.20
0.19
0.22
2 x 10-20
4 x 10-12
5 x 10-12
2 x 10-10
6 x 10-10
4 x 10-9
1.54 [1.41- 1.69]
1.45 [1.31-1.61]
1.37 [1.26-1.50]
1.39 [1.25-1.53]
1.41 [1.26-1.57]
1.35 [1.22-1.49]
Illumina
[345,665]
N
11/25/08 Kugathasan
August 31, 2008
Nat Genet
Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
Inflammatory bowel disease 1,011 cases, 4,250 controls 1,922 cases, 14,124 controls 20q13.33
21q22.2
1p31.3
16q12.1
6p21.32
9q32
TNFRSF6B
PSMG1
IL23R
NOD2
HLA-DQA1
TNFSF15
rs2315008-G
rs2836878-?
rs11209026-?
rs5743289-T
rs477515-?
rs6478109-?
0.69
0.72
0.94
0.17
0.69
0.69
9 x 10-15
4 x 10-12
7 x 10-11
4 x 10-10
1 x 10-8
3 x 10-8
1.36 [1.05-1.76]
1.41 [1.08-1.84]
2.56 [1.92-3.45]
1.46 [1.29-1.64]
1.38 [1.23-1.54]
1.36 [1.22-1.52]
Illumina
[NR]
N
11/25/08 Galvan
August 26, 2008
Int J Cancer
A polygenic model with common variants may predict lung adenocarcinoma risk in humans
Lung adenocarcinoma 482 cases, 522 controls NR NS NS NS NS NS NS Illumina
[~318,000] (pooled)
N
11/25/08 Weidinger
August 22, 2008
PLoS Genet
Genome-Wide Scan on Total Serum IgE Levels Identifies FCER1A as Novel Susceptibility Locus
Serum IgE levels 1,530 individuals 9,769 individuals 1q23.2
5q31.1
FCER1A
RAD50
rs2251746-C
rs2040704-?
0.26
0.23
2 x 10-20
4 x 10-8
19.2 [NR] % decrease
13.9 [NR] % increase
Affymetrix
[353,569]
N
11/25/08 Ferreira
August 17, 2008
Nat Genet
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
Bipolar disorder 4,387 cases, 6,209 controls NR 10q21.2
12q13.12
15q14
2q11.2
9q33.3
11q14.1
15q14
3p22.3
6q25.2
9p13.3
14q11.2
14q13.1
3p24.3
3p24.3
11q24.2
15q25.1
1p21.2
9q31.3
18p11.32
3p26.2
10q22.3
ANK3
CACNA1C
C15orf53, RASGRP1
Intergenic
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
rs10994336-T
rs1006737-A
rs12899449-?
rs2314398-?
rs4130590-?
rs12290811-A
rs16966460-G
rs4380451-?
rs17082664-G
rs216345-T
rs12436436-C
rs8015959-T
rs11720452-?
rs3821396-A
rs544368-T
rs2278702-?
rs1948368-?
rs7042161-?
rs7226677-G
rs1601875-?
rs703965-?
0.05
0.32
0.72
0.69
0.56
0.15
0.10
0.73
0.13
0.37
0.08
0.02
0.58
0.11
0.12
0.83
0.51
0.65
0.12
0.50
0.54
9 x 10-9
7 x 10-8
4 x 10-7
3 x 10-6
3 x 10-6
4 x 10-6
4 x 10-6
4 x 10-6
4 x 10-6
4 x 10-6
5 x 10-6
5 x 10-6
5 x 10-6
5 x 10-6
6 x 10-6
6 x 10-6
6 x 10-6
6 x 10-6
7 x 10-6
7 x 10-6
8 x 10-6
1.45 [NR]
1.18 [NR]
1.2 [NR]
1.17 [NR]
1.16 [NR]
1.2 [NR]
1.26 [NR]
1.18 [NR]
1.22 [NR]
1.15 [NR]
1.3 [NR]
1.59 [NR]
1.15 [NR]
1.23 [NR]
1.22 [NR]
1.21 [NR]
1.15 [NR]
1.15 [NR]
1.24 [NR]
1.14 [NR]
1.15 [NR]
Affymetrix
[1,769,948] imputed
N
04/10/09 Unoki
August 17, 2008
Nat Genet
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
Type 2 diabetes 194 Japanese cases, 1,558 Japanese controls 4,924 cases, 2,618 controls (Japanese), 1433 cases, 1,735 controls (Singaporean), 3,891 cases, 4,888 controls (Danish) 11p15.4
6p22.3
3q27.2
KCNQ1
CDKAL1
IGF2BP2
rs2237897-C
rs4712524-G
rs6769511-C
0.61
0.42
0.32
1 x 10-16
3 x 10-10
1 x 10-9
1.33 [1.24-1.41]
1.22 [1.15-1.31]
1.23 [1.15-1.31]
Affymetrix
[207,097]
N
04/03/09 Yasuda
August 17, 2008
Nat Genet
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
Type 2 diabetes 187 Japanese cases, 1,504 Japanese controls 6,552 Asian cases, 6,621 Asian controls, 2,830 cases, 3,740 controls (Swedish) 11p15.5 KCNQ1 rs2237892-C 0.61 2 x 10-42 1.4 [1.34-1.47] Invader
[82,343]
N
11/25/08 Shlien
August 12, 2008
Proc Natl Acad Sci USA
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome
TP53 carriage 53 carriers, 70 controls 770 individuals Pending Pending Pending Pending Pending Pending Affymetrix
[3,884 CNVs]
Y
11/25/08 Hofmann
August 10, 2008
Nat Genet
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis
Sarcoidosis 499 cases, 490 controls 1,649 cases, 1,832 controls NS NS NS NS NS NS Affymetrix
[375,771]
N
11/25/08 Graham
August 01, 2008
Nat Genet
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
Systemic lupus erythematosus 431 cases, 2,155 controls 740 trios 6q23.3
2q32.3
8p23.1
16p11.2
10q11.22
17p12
4q28.3
2p16.3
TNFAIP3
STAT4
BLK
ITGAM
c10orf64
Intergenic
Intergenic
Intergenic
rs5029939-?
rs3821236-?
rs2618476-?
rs11150610-?
rs11101442-?
rs12949531-?
rs2313132-?
rs17039212-?
0.03
0.19
0.26
0.42
0.32
0.22
0.12
0.10
3 x 10-12
8 x 10-11
2 x 10-8
2 x 10-6
3 x 10-6
8 x 10-6
8 x 10-6
9 x 10-6
2.28 [NR]
1.49 [NR]
1.29 [NR]
NR
NR
NR
NR
NR
Affymetrix
[313,238]
N
11/25/08 Julia
August 01, 2008
Arthritis Rheum
Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility
Rheumatoid arthritis 400 cases, 400 controls 410 cases, 394 controls 6p21.32
18q23
HLA-DQA1, HLA-DQA2
SALL3
rs6457617-?
rs2002842-A
NR
0.49
1 x 10-9
6 x 10-6
NR
1.61 [NR]
Illumina
[299,918]
N
11/25/08 O'Donovan
July 30, 2008
Nat Genet
Identification of loci associated with schizophrenia by genome-wide association and follow-up
Schizophrenia 479 cases, 2,937 controls 6,666 cases, 9,897 controls 2q32.1
11p14.1
16p13.12
ZNF804A
Intergenic
Intergenic
rs1344706-T
rs1602565-C
rs7192086-T
0.59
0.11
0.24
2 x 10-7
3 x 10-6
6 x 10-6
1.12 [NR]
1.16 [NR]
1.12 [NR]
Affymetrix
[362,532]
N
11/25/08 Schormair
July 27, 2008
Nat Genet
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
Restless legs syndrome 628 cases, 1,644 controls 1,835 cases, 3,111 controls 9p23
9p24.1
PTPRD
PTPRD
rs4626664-A
rs1975197-T
0.12
0.16
6 x 10-10
6 x 10-9
1.44 [1.31-1.59]
1.31 [1.20-1.44]
Affymetrix
[208,733]
N
11/25/08 The SEARCH Collaborative Group
July 23, 2008
N Engl J Med
SLCO1B1 Variants and Statin-Induced Myopathy--A Genomewide Study
Response to statin therapy 85 cases, 90 controls 19,856 individuals 12p12.1 SLCO1B1 rs4149056-C 0.13 2 x 10-9 4.5 [2.60-7.70] Illumina
[316,184]
N
11/25/08 Franke
July 21, 2008
Gastroenterology
Genome-wide association study anaylsis in sarcoidosis and Crohn disease unravels a common susceptibility locus on 10p12.2
Crohn's disease and Sarcoidosis (combined) 382 CD cases, 398 SA cases, 394 controls 660 CD cases, 657 SA cases, 1,091 controls 10p12.2 C10orf67 rs1398024-A 0.25 4 x 10-6 1.23 [1.04-1.45] Affymetrix
[83,360]
N
11/25/08 Liu
July 10, 2008
Mol Med
Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in Rheumatoid Arthritis
Treatment response to TNF antagonists 89 cases NR 20q12
6q26
9p21.2
7q21.3
20p11.21
2q24.3
4p15.1
1p22.3
MAFB
QKI
IFNK
PON1
CST5
LASS6
CENTD1
LMO4
rs6028945-T
rs10945919-G
rs7046653-A
rs854555-A
rs6138150-T
rs13393173-A
rs437943-G
rs983332-A
0.12
0.32
0.26
0.34
0.84
0.12
0.33
0.21
2 x 10-7
3 x 10-7
5 x 10-7
2 x 10-6
3 x 10-6
4 x 10-6
4 x 10-6
5 x 10-6
NR
NR
NR
NR
NR
NR
NR
NR
Illumina
[283,348]
N
11/25/08 Pare
July 04, 2008
PLoS Genet
Novel Association of ABO Histo-Blood Group Antigen with Soluble ICAM-1: Results of a Genome-Wide Association Study of 6,578 Women
Soluble ICAM-1 4,570 women 2,008 women 19p13.2
9q34.2
19p13.2
19p13.2
ICAM1
ABO
ICAM1
ICAM1
rs1799969-G
rs507666-G
rs5498-A
rs281437-?
0.12
0.20
0.43
0.30
4 x 10-47
5 x 10-29
5 x 10-25
3 x 10-10
28.19 [NR] umol/L decrease
17.73 [NR] umol/L decrease
13.22 [NR] umol/L increase
10.1 [NR] umol/L increase
Illumina
[336,108]
N
11/25/08 Bae
July 02, 2008
Biochem Biophys Res Commun
Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population
Subarachnoid aneurysmal hemorrhage 203 cases, 294 controls NR Pending Pending Pending Pending Pending Pending Illumina
[317,503]
Y
11/25/08 Sarasquete
July 01, 2008
Blood
Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis
Osteonecrosis of the jaw 21 cases, 64 controls NR 10q23.33 CYP2C8 rs1934951-T 0.12 1 x 10-6 12.75 [3.7-43.5] Affymetrix
[339,972]
N
11/25/08 Turner
June 30, 2008
Hypertension
Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic
Response to diuretic therapy 194 blacks, 195 whites NR 12q15 LYZ, YEATS4, FRS2 3-SNP haplotype NR 6 x 10-6 NR Affymetrix
[up to 102,334]
N
11/25/08 Barrett
June 29, 2008
Nat Genet
Genome-wide assocation defines more than 30 distinct susceptibility loci for Crohn's disease
Crohn's disease 3,230 cases 4,829 controls 1,339 trios, 2,325 cases, 1,809 controls 1p31.3
2q37.1
5p13.1
16q12.1
10q21.2
5q31.1
18p11.21
10q24.2
5q33.1
13q14.11
5q33.3
3p21.31
6q27
17q21.2
1q32.1
6q21
12q12
9q32
6p22.3
11q13.5
1q23.2
21q22.3
10p11.21
1q24.3
9p24.1
17q12
7p12.2
8q24.13
21q21.1
1p13.2
IL23R
ATG16L1
PTGER4
NOD2
ZNF365
Intergenic
PTPN2
NKX2-3
IRGM
Unknown
IL12B
MST1
CCR6
STAT3
Intergenic
Unknown
LRRK2, MUC19
TNFSF15
CDKAL1
C11orf30
ITLN1
ICOSLG
Intergenic
Intergenic
JAK2
ORMDL3
Intergenic
Intergenic
Intergenic
PTPN22
rs11465804-T
rs3828309-G
rs4613763-C
rs2066847-C
rs10995271-C
rs2188962-T
rs2542151-G
rs11190140-T
rs11747270-G
rs3764147-G
rs10045431-C
rs3197999-A
rs2301436-T
rs744166-A
rs11584383-T
rs7746082-C
rs11175593-T
rs4263839-G
rs6908425-C
rs7927894-T
rs2274910-C
rs762421-G
rs17582416-G
rs9286879-G
rs10758669-C
rs2872507-A
rs1456893-A
rs1551398-A
rs1736135-T
rs2476601-G
0.93
0.53
0.13
0.02
0.39
0.43
0.15
0.48
0.09
0.22
0.71
0.27
0.46
0.57
0.70
0.29
0.02
0.68
0.78
0.39
0.68
0.39
0.35
0.24
0.35
0.47
0.68
0.62
0.57
0.90
7 x 10-63
2 x 10-32
7 x 10-27
3 x 10-24
4 x 10-20
2 x 10-18
5 x 10-17
3 x 10-16
3 x 10-16
2 x 10-13
4 x 10-13
1 x 10-12
1 x 10-12
7 x 10-12
1 x 10-11
2 x 10-10
3 x 10-10
3 x 10-10
9 x 10-10
1 x 10-9
1 x 10-9
1 x 10-9
2 x 10-9
2 x 10-9
3 x 10-9
5x 10-9
5 x 10-9
5 x 10-9
7 x 10-9
1 x 10-8
2.5 [NR]
1.25 [NR]
1.32 [NR]
3.99 [NR]
1.25 [NR]
1.25 [NR]
1.35 [NR]
1.2 [NR]
1.33 [NR]
1.25 [NR]
1.11 [NR]
1.2 [NR]
1.21 [NR]
1.18 [NR]
1.18 [NR]
1.17 [NR]
1.54 [NR]
1.22 [NR]
1.21 [NR]
1.16 [NR]
1.14 [NR]
1.13 [NR]
1.16 [NR]
1.19 [NR]
1.12 [NR]
1.12 [NR]
1.2 [NR]
1.08 [NR]
1.18 [NR]
1.31 [NR]
Affymetrix and Illumina
[635,547] (imputed)
N
11/25/08 Behrens
June 24, 2008
Arthritis Rheum
Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis
Arthritis (juvenile idiopathic) 130 cases 1,952 controls NR 6p21.32 HLA-DRB1 rs2395148-? NR 2 x 10-10 5.37 [3.02-9.56] Illumina
[524,684]
N
11/25/08 Bouatia-Naji
June 19, 2008
Science
A Polymorphism Within the G6PC2 Gene is Associated with Fasting Plasma Glucose Levels
Fasting plasma glucose 654 normoglycemic individuals 9,353 individuals 2q24.3 G6PC2 rs560887-A 0.30 4 x 10-23 .06 [0.05-0.08] mmol/l decrease Illumina
[392,935]
N
11/25/08 Cooper
June 05, 2008
Blood
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose
Warfarin maintenance dose 181 individuals 374 individuals 16p11.2
10q23.33
12p13.33
VKORC1
CYP2C9
CACNA1C
rs10871454-?
rs4086116-?
rs216013-?
NR
NR
NR
5 x 10-34
6x 10-12
9 x 10-7
NR
NR
NR
Illumina
[538,629]
N
11/25/08 Chen
June 04, 2008
J Clin Invest
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels
Fasting plasma glucose 5,088 nondiabetic individuals 18,436 nondiabetic individuals 2q24.3 G6PC2,ABCB11 rs563694-C 0.34 4 x 10-7 NR Illumina
[315,635]
N
11/25/08 Uhl
June 04, 2008
Arch Gen Psychiatry
Molecular genetics of successful smoking cessation: convergent genome-wide association study results
Smoking cessation 241 cases, 309 controls NR NS NS NS NS NS NS Affymetrix
[~500,000] (pooled)
N
11/25/08 Lavedan
June 03, 2008
Mol Psychiatry
Association of the NPAS3gene and five other loci with response of the antipsychotic iloperidone identified in a whole genome association study
Response to iloperidone treatment (PANSS-T score) 106 individuals 104 individuals NS NS NS NS NS NS Affymetrix
[334,563]
N
11/25/08 Volpi
June 03, 2008
Mol Psychiatry
Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia
Response to iloperidone treatment (QT prolongation) 183 individuals NR 10q23.1
14q12
15q26.1
18q12.2
2q31.3
4q32.3
NRG3
NUBPL
SLCO3A1
BRUNOL4
CERKL
PALLD
rs4933824-T
rs7142881-A
rs3924426-T
rs4799915-T
rs993648-T
rs17054392-C
NR
NR
NR
NR
NR
NR
2 x 10-6
2 x 10-6
2 x 10-6
3 x 10-6
3 x 10-6
3 x 10-6
NR
NR
NR
NR
NR
NR
Affymetrix
[339,272]
N
11/25/08 Brown
May 18, 2008
Nat Genet
Common sequence variants on 20q11.22 confer melanoma susceptibility
Melanoma 864 cases, 864 controls 1,230 cases, 1,251 controls 20q11.22 CDC91L1 rs910873-T 0.09 1 x 10-15 1.75 [1.53-2.01] Illumina
[535,150] (pooled)
N
11/25/08 Sulem
May 18, 2008
Nat Genet
Two newly identified genetic determinants of pigmentation in Europeans
Blond vs. brown hair color 5,130 individuals 3,330 individuals 11q13.2 TPCN2 rs35264875-T 0.22 4 x 10-30 2.49 [1.96-3.15] Illumina
[316,515]
N
11/25/08 " Blue vs. green eyes 5,130 individuals 3,330 individuals 9p23 TYRP1 rs1408799-C 0.75 6 x 10-17 1.4 [1.25-1.57] Illumina
[316,515]
N
11/25/08 " Burning and freckling 5,130 individuals 3,330 individuals 20q11.22 ASIP rs1015362-G + rs4911414-T 0.08 6 x 10-37 2.56 [2.06-3.18] Illumina
[316,515]
N
11/25/08 " Freckles 5,130 individuals 3,330 individuals 20q11.22 ASIP rs1015362-G + rs4911414-T 0.08 8 x 10-29 1.95 [1.65-2.32] Illumina
[316,515]
N
11/25/08 " Red vs. non-red hair color 5,130 individuals 3,330 individuals 20q11.22 ASIP rs1015362-G + rs4911414-T 0.08 3 x 10-9 1.76 [1.34-2.31] Illumina
[316,515]
N
11/25/08 " Skin sensitivity to sun 5,130 individuals 3,330 individuals 20q11.22 ASIP rs1015362-G + rs4911414-T 0.08 2 x 10-24 1.76 [1.49-2.08] Illumina
[316,515]
N
11/25/08 Han
May 16, 2008
PLoS Genet
A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation
Black vs. blond hair color 2,287 women up to 8,465 individuals 6p25.3
15q13.1
15q13.1
14q32.12
5p13.3
15q13.1
6p25.3
IRF4
HERC2
OCA2
SLC24A4
MATP
Intergenic
EXOC2
rs12203592-T
rs12913832-A
rs11855019-G
rs12896399-G
rs28777-C
rs8033165-T
rs6918152-A
NR
NR
NR
NR
NR
NR
NR
7 x 10-127
4 x 10-103
2 x 10-24
8 x 10-21
1 x 10-17
5 x 10-11
6 x 10-8
.35 [0.33-0.37] decrease in hair color score
.44 [0.40-0.48] decrease in hair color score
.28 [0.22-0.34] decrease in hair color score
.18 [0.14-0.22] increase in hair color score
.46 [0.36-0.56] decrease in hair color score
.12 [0.08-0.16] increase in hair color score
.11 [0.07-0.15] increase in hair color score
Illumina
[528,173]
N
11/25/08 " Black vs. red hair color 2,287 women up to 8,465 individuals 15q13.1
6p25.3
16q24.3
15q13.1
5p13.3
15q13.1
6p25.3
HERC2
IRF4
MC1R
OCA2
MATP
Intergenic
EXOC2
rs12913832-A
rs12203592-T
rs258322-T
rs11855019-G
rs28777-C
rs8033165-T
rs6918152-A
NR
NR
NR
NR
NR
NR
NR
1 x 10-77
9 x 10-28
2 x 10-23
6 x 10-20
9 x 10-14
2 x 10-12
5 x 10-7
.44 [0.40-0.48] decrease in hair color score
.31 [0.25-0.36] decrease in hair color score
.36 [0.28-0.44] increase in hair color score
.29 [0.23-0.35] decrease in hair color score
.46 [0.34-0.58] decrease in hair color score
.15 [0.11-0.19] increase in hair color score
.11 [0.07-0.15] increase in hair color score
Illumina
[528,173]
N
11/25/08 Maris
May 09, 2008
N Engl J Med
Chromosome 6p22 Locus Associated with Clinically Aggressive Neuroblastoma
Neuroblastoma 1,032 cases, 2,043 controls 720 cases, 2,128 controls 6p22.3 FLJ22536, FLJ44180 rs6939340-G 0.50 9 x 10-15 1.37 [1.27-1.49] Illumina
[464,934]
N
11/25/08 Melzer
May 09, 2008
PLoS Genet
A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)
Protein quantitative trait loci 1,200 individuals NR 1q21.3
9q34.2
17q12
11q23.1
12q12
6q26
11q23.3
17p12
12q24.11
13q12.11
18q11.2
1q21.1
22q11.23
17p13.1
6q11.1
19p13.2
17q25.3
15q15.2
16q23.2
2p12
12p12.3
1q21.1
8q21.11
9q31.2
11q24.2
12q24.33
2p13.3
5q35.1
6q23.2
6q24.3
7p21.3
11p15.5
6q22.31
10p11.21
15q21.1
18q12.1
1p21.1
9q22.2
13q12.2
2q23.1
3p12.3
6p21.33
10p12.33
1q23.2
2p15
8q24.21
2p11.2
2q13
11q14.1
IL6R
ABO
CCL4L2
IL18
PDZRN4,CNTN1
LPA
PAFAH1B2
HS3ST3B1
ATP2A2
FGF3
OSBPL1A
CHD1L
GGT1
SHBG
KHDRBS2
ANGPTL6
C17orf62
CDAN1
BCM01
CTNNA2
EPS8
CHD1L
GDAP1,PI15
TMEM38B
KIRREL3
GPR133
DYSF
DOCK2
EYA4
SASH1
NXPH1
KCNQ1
GJA1
FZD8,ANKRD30A
DUT
DSC3
COL11A
GADD45G,DIRAS2
SACS
EPC2
ROBO1
HLA-C
CACNB2
CRP
LOC51057
FAM49B
SH2D6
IL1RN
DLG2
rs4129267-C
rs505922-?
rs4796217-T
rs2250417-A
rs1880887-?
rs7770628-T
rs7112513-?
rs3848445-?
rs11065611-?
rs17369571-?
rs9635963-?
rs4950322-?
rs5751901-T
rs6761-?
rs6455128-?
rs8109578-?
rs9303029-?
rs16957063-?
rs4889294-?
rs11695685-?
rs17415853-?
rs4950322-?
rs6472866-?
rs4742971-?
rs1939992-?
rs10466868-?
rs2900976-?
rs169082-?
rs9402515-?
rs6930337-?
rs1285407-?
rs2237878-?
rs4541776-?
rs1779876-?
rs11637235-?
rs2729409-?
rs10874639-?
rs2081670-?
rs4770433-?
rs10191411-?
rs9834373-?
rs9461688-?
rs7076247-?
rs12093699-?
rs11683229-?
rs10092658-?
rs7577642-?
rs6761276-?
rs3885683-?
0.37
0.34
0.34
0.44
0.03
0.49
0.13
0.05
0.06
0.16
0.18
0.21
0.39
0.31
0.19
0.08
0.08
0.01
0.47
0.30
0.02
0.21
0.42
0.11
0.26
0.12
0.30
0.48
0.09
0.06
0.35
0.07
0.33
0.10
0.28
0.26
0.12
0.15
0.40
0.32
0.17
0.31
0.37
0.29
0.15
0.07
0.27
0.37
0.11
2 x 10-57 (sIL-6R)
7 x 10-40 (TNFA)
4 x 10-21 (MIPb)
7 x 10-13 (IL18)
1 x 10-10 (Alkaline phosphatase)
4 x 10-10 (LPA)
6 x 10-9 (Soluble transferrin receptor)
8 x 10-9 (Ft3)
1 x 10-7 (Alpha-1 globulin)
1 x 10-7 (IL1RA)
2 x 10-7 (SHBG)
2 x 10-7 (Resistin)
2 x 10-7 (GGT1)
3 x 10-7 (SHBG)
3 x 10-7 (GOT (AST))
4 x 10-7 (TSH)
4 x 10-7 (Free IGF1)
5 x 10-7 (Ft4)
5 x 10-7 (IL1B)
5 x 10-7 (IL10)
7 x 10-7 (Ferritin)
7x 10-7 (Hgb)
8 x 10-7 (myoglobin)
8 x 10-7 (GPT (ALT))
1 x 10-6 (Total IGF-1)
1 x 10-6 (Erythropoeitin)
1 x 10-6 (Albumin)
1 x 10-6 (Leptin)
1 x 10-6 (Alpha-2 macroglobulin)
1 x 10-6 (insulin)
1 x 10-6 (TGF-b1)
1 x 10-6 (Lactic dehydrogenase)
2 x 10-6 (GGT)
3 x 10-6 (Lipoprotein A)
3 x 10-6 (Adiponectin)
3 x 10-6 (Parathyroid hormone)
3 x 10-6 (Fibrinogen)
3 x 10-6 (MIP-1b)
4 x 10-6 (IL12)
4 x 10-6 (IL8)
4 x 10-6 (GP130)
4 x 10-6 (IL18)
6 x 10-6 (CRP)
6 x 10-6 (CRP)
6 x 10-6 (IL6)
6 x 10-6 (Aldolase)
7 x 10-6 (sIL-6R)
7 x 10-6 (IL1RA)
8 x 10-6 (MCP1)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Illumina
[496,032]
N
11/25/08 Kibriya
May 08, 2008
Breast Cancer Res Treat
A pilot genome-wide association study of early-onset breast cancer
Breast cancer 30 cases, 30 controls NR 2q37.1 GLG1 3-SNP haplotype 1 0.34 4 x 10-7 NR Affymetrix
[200,220]
N
11/25/08 Valdes
May 08, 2008
Am J Hum Genet
Genome-wide Association Scan Identifies a Prostaglandin-Endoperoxide Synthase 2 Variant Involved in Risk of Knee Osteoarthritis
Knee osteoarthritis 357 cases, 285 controls 1,177 cases, 2,372 controls 1q31.1
2q33.3
PTGS2, PLA2G4A
PARD3B
rs4140564-?
rs1207421-?
0.05
0.09
3 x 10-6
6 x 10-6
1.59 [1.31-1.94]
1.46 [1.24-1.73]
Illumina
[413,461]
N
11/25/08 Chambers
May 04, 2008
Nat Genet
Common genetic variation near MC4R is associated with waist circumference and insulin resistance
Waist circumference and related phenotypes 2,684 Asian Indian men 11,955 Asian Indian and European individuals 16q13
18q21.32
2p23.3
8p21.3
CETP
MC4R
GCKR
LPL
rs3764261-?
rs12970134-A
rs1260326-?
rs2083637-?
NR
0.36
NR
NR
1 x 10-27 (HDL cholesterol)
2 x 10-9 (waist circumference)
4 x 10-8 (triglycerides)
5 x 10-6 (HDL cholesterol)
NR
.88 [0.59-1.17] cm increase
NR
NR
Illumina
[308,067]
N
11/25/08 Loos
May 04, 2008
Nat Genet
Common variants near MC4R are associated with fat mass, weight and risk of obesity
Body mass index 16,876 individuals 60,352 individuals 18q21.32
16q12.2
MC4R
FTO
rs17782313-C
rs1121980-?
0.24
NR
3 x 10-15
4 x 10-8
.05 [0.04-0.06] unit increase in log(BMI)
.06 [0.04-0.08] unit increase in log(BMI)
Affymetrix
[344,883]
N
11/25/08 Poduslo
April 30, 2008
Am J Med Genet B Neuropsychiatr Genet
Genome Screen of Late-Onset Alzheimer's Extended Pedigrees Identifies TRPC4AP by Haplotype Analysis
Alzheimer's disease 29 siblings from 2 affected families, 60 unrelated controls 199 patients, 85 spouses NS NS NS NS NS NS Affymetrix
[469,218]
N
11/25/08 Richards
April 29, 2008
Lancet
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study
Bone mineral density 2,094 women 6,463 individuals 11q13.2
8q24.12
LRP5
TNFRSF11B
rs3736228-T
rs4355801-A
0.14
0.53
6 x 10-12
8 x 10-10
.13 [NR] SD decrease
.09 [NR] SD decrease
Illumina
[314,075]
N
11/25/08 Styrkarsdottir
April 29, 2008
N Engl J Med
Multiple Genetic Loci for Bone Mineral Density and Fractures
Bone mineral density (hip) 5,861 individuals 7,925 individuals 1p36.12
8q24.12
6q25.1
13q14.11
6q25.1
18q21.33
ZBTB40
OPG
ESR1
RANKL
ESR1, C6orf97
RANK
rs7524102-A
rs6993813-C
rs1038304-G
rs9594738-T
rs4870044-T
rs3018362-A
0.82
0.50
0.47
0.56
0.28
0.35
5 x 10-16
3 x 10-11
5 x 10-9
2 x 10-8
2 x 10-7
1 x 10-6
.15 [0.11-0.19] SD decrease
.09 [0.07-0.12] SD decrease
.08 [0.06-0.11] SD decrease
.1 [0.06-0.13] SD decrease
.08 [0.05-0.11] SD decrease
.07 [0.04-0.10] SD decrease
Illumina
[301,019]
N
11/25/08 " Bone mineral density (spine) 5,861 individuals 7,925 individuals 13q14.11
8q24.12
6p25.1
6q25.1
1p36.12
6q25.1
6p21.32
2p16.2
RANKL
OPG
ESR1
ESR1, C6orf97
ZBTB40
ESR1, C6orf97
MHC, C6orf10
SPTBN1
rs9594759-T
rs6469804-A
rs4870044-T
rs1038304-G
rs7524102-A
rs1999805-C
rs3130340-T
rs11898505-G
0.62
0.51
0.28
0.47
0.82
0.44
0.79
0.67
2 x 10-21
7 x 10-15
2 x 10-11
4 x 10-11
9 x 10-9
2 x 10-8
1 x 10-7
8 x 10-7
.17 [0.14-0.21] SD decrease
.12 [0.09-0.15] SD decrease
.11 [0.08-0.14] SD decrease
.1 [0.07-0.13] SD decrease
.11 [0.07-0.15] SD decrease
.09 [0.06-0.12] SD decrease
.1 [0.06-0.13] SD decrease
.08 [0.05-0.11] SD decrease
Illumina
[301,019]
N
11/25/08 Walsh
April 25, 2008
Science
Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Schizophrenia 150 cases, 268 controls 83 children, 154 parents Pending Pending Pending Pending Pending Pending Illumina
[~550,000]
Y
11/25/08 Reiner
April 24, 2008
Am J Hum Genet
Polymorphisms of the HNF1A Gene Encoding Hepatocyte Nuclear Factor-1 Alpha are Associated with C-Reactive Protein
C-reactive protein 909 individuals 5,106 individuals 12q24.31
19q13.32
1q23.2
HNF1A
APOE
CRP
rs1169310-A
rs2075650-?
rs11265260-?
0.38
NR
NR
2 x 10-8
1 x 10-7
7 x 10-6
.13 [0.08-0.17] mg/l decrease in log(CRP) level
NR
NR
Illumina
[317,000]
N
11/25/08 Ridker
April 24, 2008
Am J Hum Genet
Loci Related to Metabolic-Syndrome Pathways Including LEPR, HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study
C-reactive protein 6,345 women NR 1q23.2
1p31.3
19q13.32
12q24.31
2p23.3
12q23.2
1q21.3
CRP
LEPR
APOE
HNF1A
GCKR
Unknown
IL6R
rs3091244-?
rs1892534-A
rs769449-?
rs7310409-A
rs780094-A
rs10778213-G
rs8192284-?
NR
NR
NR
NR
NR
NR
NR
6 x 10-28
7 x 10-21
9 x 10-21
7 x 10-17
7 x 10-15
1 x 10-10
2 x 10-8
.2 [NR] mg/dl increase
.17 [NR] mg/dl decrease
.26 [NR] mg/dl decrease
.15 [NR] mg/dl decrease
.14 [NR] mg/dl increase
.12 [NR] mg/dl decrease
.1 [NR] mg/dl decrease
Illumina
[336,108]
N
11/25/08 Ober
April 09, 2008
N Engl J Med
Effect of Variation in CHI31 on Serum YKL-40 Level, Risk of Asthma, and Lung Function
YKL-40 levels 632 individuals 206 children 1q32.1 CHI3L1 rs4950928-G 0.29 1 x 10-13 .3 [NR] ng/ml decrease Affymetrix
[290,325]
N
11/25/08 Gudbjartsson
April 06, 2008
Nat Genet
Many sequence variants affecting diversity of adult human height
Height 30,968 individuals 8,541 individuals 3q23
12q14.3
7p22.2
6q24.1
4q31.22
6p24.3
2p16.1
14q32.12
1q21.2
4p15.32
6p22.1
17q11.2
18q11.2
1q25.3
6p21.31
7q21.2
20p12.3
9q31.2
15q26.3
1q24.3
6p21.32
6p21.31
8q21.11
17q23.2
8q12.1
17q22
12q22
9q32
6q22.32
17q23.3
6p22.3
16q24.1
20q11.22
2p23.3
6q21
15q25.2
9q22.1
19p13.2
2q35
2q37.1
12p12.2
12p13.2
4q21.21
12q15
Xq21.1
6q21
22q11.23
6q22.33-6q23.1
3q26.2
13q14.3
5q31.1
6p12.3
ZBTB38
HMGA2
GNA12
GPR126
HHIP
BMP6
EFEMP1, PNPT1
TRIP11, FBLN5, ATXN3, CPSF2
Histone class 2A,MTMR11, SV2A, SF3B4
LCORL, NCAPG
Histone class 1,Butyrophilin genes
CRLF3, ATAD5, CENTA2, RNF135
CABLES1, RBBP8, C18orf45
C1orf19,GLT25D2
HMGA1, LBH
CDK6, PEX1, GATAD1, ERVWE1
BMP2
ZNF462
ADAMTS17
DNM3
HLA class III
ANKS1A, TCP11, ZNF76, DEF6,SCUBE3
PXMP3, ZFHX4
BCAS3, NACA2, TBX2, TBX4
PLAG1, MOS, CHCHD7,RDHE2, RPS20,LYN, TGS1, PENK
NOG, DGKE, TRIM25, COIL, RISK
SOCS2, MRPL42, CRADD, UBE2N
COL27A1
C6orf173
MAP3K3, WDR68, LYK5, MT1F
NUP153, CAP2, KIF13A
ZDHHC7, CRISPLD2, USP10
UQCC, GDF5, CEP250, EIF6, MMP24
ADCY3, RBJ, POMC, DNMT3A, DTNB
LIN28B, HACE1, BVES, POPDC3
ADAMTSL3, SH3GL3
SPIN1, CCRK
ADAMTS10, MYO1F, PRAM1, OR2Z1
IHH, CRYBA2, FEV, SLC23A3, TUBA1
NPPC, DIS3L2, COPS7B, PDE6D, PTMA
PDE3A, SLCO1C1, SLCO1B3
ETV6
BMP3, PRKG2, RASGEF1B
LYZ,YEATS4,FRS2,CPSF6,CCT2,LRRC10
ITM2A
PPIL6, CD164, SMPD2,MNICAL1,ZBTB24
BCR, GNAZ, RTDR1, IGLL1
L3MBTL3, SAMD3
GOLIM4, SERPINI1
DLEU7
PITX1, PCBD2, CATSPER3, TXNDC15,DDX46, CAMLG
SUPT3H, RUNX2
rs6763931-A
rs8756-C
rs798544-G
rs3748069-A
rs1812175-C
rs12198986-A
rs3791679-T
rs7153027-A
rs11205277-G
rs6830062-T
rs10946808-A
rs3760318-C
rs4800148-A
rs2274432-T
rs1776897-C
rs2282978-C
rs967417-C
rs4743034-A
rs4533267-A
rs678962-G
rs185819-T
rs4713858-G
rs7846385-C
rs757608-T
rs10958476-C
rs4794665-A
rs3825199-C
rs946053-T
rs1490388-T
rs7209435-C
rs12199222-T
rs2326458-C
rs6088792-T
rs6733301-G
rs314268-C
rs2554380-T
rs2814828-T
rs7249094-G
rs1052483-C
rs749052-A
rs11611208-A
rs2187642-A
rs710841-A
rs11177669-A
rs1474563-T
rs9487094-G
rs5751614-A
rs6899976-G
rs4345115-T
rs1239947-G
rs31198-T
rs9395066-C
0.45
0.52
0.72
0.74
0.86
0.50
0.81
0.52
0.44
0.89
0.70
0.63
0.79
0.37
0.07
0.29
0.53
0.23
0.28
0.22
0.52
0.86
0.27
0.35
0.23
0.48
0.24
0.52
0.42
0.27
0.33
0.26
0.26
0.87
0.34
0.78
0.25
0.59
0.91
0.94
0.06
0.39
0.27
0.31
0.58
0.69
0.49
0.28
0.63
0.35
0.75
0.48
1 x 10-27
2 x 10-16
7 x 10-15
5 x 10-14
1 x 10-11
2 x 10-11
6 x 10-11
1 x 10-10
1 x 10-10
1 x 10-10
6 x 10-10
2 x 10-9
4 x 10-9
8 X 10-9
1 x 10-8
1 x 10-8
2 x 10-8
2 x 10-8
3 x 10-8
3 X 10-8
3 x 10-8
4 x 10-8
5 x 10-8
6 x 10-8
7 x 10-8
1 x 10-7
2 x 10-7
2 x 10-7
6 X 10-7
7 x 10-7
7 x 10-7
8 x 10-7
8 x 10-7
8 x 10-7
8 x 10-7
9 x 10-7
9 X 10-7
1 x 10-6
1 x 10-6
1 x 10-6
2 x 10-6
2 x 10-6
2 x 10-6
3 x 10-6
3 x 10-6
4 x 10-6
6 x 10-6
6 X 10-6
7 x 10-6
8 x 10-6
8 x 10-6
8 x 10-6
7.4 [6.03-8.77] % SD taller
6.6 [5.03-8.17] % SD taller
5.9 [6.03-8.77] % SD taller
6.5 [5.44-9.36] % SD taller
8.3 [5.95-10.65] % SD taller
6.8 [4.84-8.76] % SD taller
5.8 [4.04-7.56] % SD taller
5.7 [3.94-7.46] % SD taller
5.1 [3.53-6.67] % SD taller
6.3 [4.34-8.26] % SD taller
5.6 [3.84-7.36] % SD taller
6 [4.04-7.96] % SD taller % SD taller
6.4 [4.24-8.56] % SD taller
5.3 [3.54-7.06] % SD taller
8.8 [5.66-11.94] % SD taller
5.8 [3.84-7.76] % SD taller
4.3 [2.73-5.87] % SD taller
5.3 [3.54-7.06] % SD taller
5.6 [3.64-7.56] % SD taller % SD taller
5.4 [3.44-7.36] % SD taller
5.2 [3.44-6.96] % SD taller
6.8 [4.45-9.15] % SD taller
5 [3.24-6.76] % SD taller
4.4 [2.83-5.97] % SD taller
5.4 [3.44-7.36] % SD taller
3.6 [2.23-4.97] % SD taller
6.2 [3.85-8.55] % SD taller
4.4 [2.83-5.97] % SD taller
4.8 [2.84-6.76] % SD taller
4.8 [2.84-6.76] % SD taller
4.4 [2.64-6.16] % SD taller
5.1 [3.14-7.06] % SD taller
4.7 [2.74-6.66] % SD taller
7.5 [4.56-10.44] % SD taller
4.6 [2.84-6.36] % SD taller
4.5 [2.74-6.26] % SD taller
5.4 [3.24-7.56] % SD taller
4.3 [2.54-6.06] % SD taller
6.9 [4.16-9.64] % SD taller
8.7 [5.17-12.23] % SD taller
11.4 [6.7-16.1] % SD taller
4.6 [2.64-6.56] % SD taller
5 [3.04-6.96] % SD taller
4.5 [2.54-6.46] % SD taller
3.5 [1.93-5.07] % SD taller
4.7 [2.74-6.66] % SD taller
4.3 [2.34-6.26] % SD taller
3.8 [2.23-5.37] % SD taller
4.4 [2.44-6.36] % SD taller
3.8 [2.23-5.37] % SD taller
4.8 [2.64-6.96] % SD taller
3.5 [1.93-5.07] % SD taller
Illumina and Affymetrix
[up to 304,226]
N
11/25/08 Lettre
April 06, 2008
Nat Genet
Identification of ten loci associated with height highlights new biological pathways in human growth
Height 15,821 individuals 13,671 individuals 3q23
12q14.3
6q24.3
6q22.1
20q11.22
4q31.22
14q32.12
6q21
19p13.3
15q25.2
7q36.3
7q21.2
8q12.1
9q34.11
9q33.1
17q22
16p13.3
14q13.3
ZBTB38
HMGA2
GPR126
HIST1H1D
GDF5,UQCC
HHIP
TRIP11,ATXN3
LIN28B
DOT1L
SH3GL3,ADAMTSL3
WDR60
CDK6
CHCHD7,RDHE2
FUBP3
PAPPA
ANKFN1
RAB40C
NKX2-1
rs724016-G
rs1042725-T
rs4896582-A
rs10946808-G
rs6060369-C
rs1492820-G
rs8007661-T
rs314277-A
rs12986413-T
rs2562784-G
rs2730245-G
rs2040494-C
rs9650315-T
rs7466269-G
rs7869550-G
rs12449568-C
rs763014-C
rs17104630-G
0.48
0.49
0.27
0.28
0.36
0.48
0.30
0.13
0.45
0.17
0.33
0.50
0.13
0.33
0.24
0.47
0.43
0.04
8 x 10-22
3 x 10-20
2 x 10-18
4 x 10-17
1 x 10-16
1 x 10-11
6 x 10-10
1 x 10-8
3 x 10-8
6 x 10-8
3 x 10-7
4 x 10-7
4 x 10-7
8 x 10-7
1 x 10-6
2 x 10-6
5 x 10-6
8 x 10-6
.37 [0.29-0.45] cm taller
.48 [0.58-1.09] cm shorter
.38 [0.28-0.48] cm shorter
.36 [0.26-0.46] cm shorter
.44 [0.34-0.72] cm taller
.29 [0.21-0.37] cm shorter
.42 [0.30-0.54] cm shorter
.41 [0.26-0.59] cm taller
.31 [0.21-0.46] cm taller
.34 [0.21-0.48] cm taller
.32 [0.19-0.44] cm taller
.26 [0.36-0.65] cm shorter
.43 [0.59-1.07] cm shorter
.27 [0.38-0.69] cm shorter
.33 [0.45-0.82] cm shorter
.25 [0.15-0.35] cm taller
.24 [0.12-0.29] cm taller
.42 [0.61-1.10] cm shorter
Affymetrix and Illumina
[2,260,683] (imputed)
N
11/25/08 Weedon
April 06, 2008
Nat Genet
Genome-wide association analysis identifies 20 loci that influence adult height
Height 13,665 individuals 16,482 individuals 3q23
7q21.2
12q14.3
20q11.22
4p15.32
6q22.32
2p16.1
6p21.31
1p12
9q22.32
12q22
4q31.22
1q42.13
13q14.3
15q25.2
1p34.2
2q35
3q22.2
15q26.1
18q21.1
ZBTB38
CDK6
HMGA2
GDF5
LCORL
LOC387103
EFEMP1
C6orf106
SPAG17
PTCH1
SOCS2
HHIP
ZNF678
DLEU7
ADAMTSL3
SCMH1
IHH
ANAPC13,CEP63
ACAN
DYM
rs6440003-A
rs2282978-C
rs1042725-C
rs6060373-G
rs16896068-A
rs4549631-C
rs3791675-C
rs2814993-A
rs12735613-A
rs10512248-G
rs11107116-G
rs6854783-A
rs1390401-A
rs3116602-G
rs10906982-A
rs6686842-C
rs6724465-A
rs10935120-A
rs8041863-A
rs8099594-A
0.44
0.33
0.49
0.38
0.16
0.50
0.23
0.15
0.24
0.31
0.23
0.43
0.18
0.21
0.48
0.44
0.10
0.33
0.47
0.35
2 x 10-24
8 x 10-23
3 x 10-18
2 x 10-17
2 x 10-13
5 x 10-13
2 x 10-12
4 x 10-12
4 x 10-11
4 x 10-11
6 x 10-10
2 x 10-9
5 x 10-9
7 x 10-9
2 x 10-8
2 x 10-8
2 x 10-8
7 x 10-8
8 x 10-8
3 x 10-7
.07 [0.04-0.09] SD taller - among males
.09 [0.06-0.12] SD taller - among males
.05 [0.03-0.08] SD taller - among males
.08 [0.05-0.11] SD shorter - among males
.07 [0.03-0.11] SD shorter - among males
.06 [0.03-0.08] SD taller - among males
.09 [0.05-0.12] SD taller - among males
.09 [0.05-0.13] SD taller - among males
.08 [0.05-0.11] SD shorter - among males
.05 [0.02-0.07] SD taller - among males
.04 [0.01-0.07] SD shorter - among males
.06 [0.03-0.08] SD taller - among males
.04 [0.01-0.08] SD taller - among males
.04 [0.00-0.07] SD shorter - among males
.05 [0.02-0.07] SD taller - among males
.05 [0.02-0.08] SD shorter - among males
.06 [0.02-0.10] SD shorter - among males
.06 [0.03-0.09] SD shorter - among males
.04 [0.01-0.06] SD taller - among males
.05 [0.02-0.08] SD taller - among males
Affymetrix
[402,951]
N
11/25/08 Liu
April 04, 2008
PLoS Genet
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease Loci
Psoriasis 218 cases, 519 controls 1,153 cases, 1,217 controls 6p21.33
6p21.33
13q13
HLA-C
HLA-C
COG6
rs10484554-T
rs2395029-C
rs7993214-?
0.15
0.03
0.65
2 x 10-39
2 x 10-26
2 x 10-6
2.8 [2.40-3.30]
4.1 [3.10-5.30]
1.41 [1.22-1.61]
Illumina
[305,983]
N
11/25/08 Amos
April 03, 2008
Nat Genet
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1
Lung cancer 1,154 cases, 1,137 controls 2,724 cases, 3,694 controls 15q25.1
1q23.2
3q28
CHRNA3, CHRNA5, PSMA4, LOC123688
CRP
IL1RAP
rs8034191-G
rs2808630-G
rs7626795-G
NR
NR
NR
3 x 10-18
7 x 10-6
8 x 10-6
1.3 [1.15-1.47]
1.22 [1.10-1.35]
1.16 [1.05-1.28]
Illumina
[317,498]
N
11/25/08 Hung
April 03, 2008
Nature
A susceptibility locus for lung cancer maps to nicotinic acteylcholine receptor subunit genes on 15q25
Lung cancer 1,926 cases, 2,522 controls 2,513 cases, 4,752 controls 15q25.1 CHRNA3,CHRNA5, CHRNB4, PSMA4, LOC123688 rs8034191-C 0.34 5 x 10-20 1.3 [1.23-1.37] Illumina
[310,023]
N
11/25/08 Thorgeirsson
April 03, 2008
Nature
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
Nicotine dependence 10,995 smokers 4,848 smokers 15q25.1 CHRNA3,CHRNA5,CHRNB4 rs1051730-T 0.35 6 x 10-20 .1 [0.08-0.12] increase in cigarettes per day Illumina
[306,207]
N
11/25/08 Tenesa
March 30, 2008
Nat Genet
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
Colorectal cancer 981 cases, 1,002 controls 16,476 cases, 15,351 controls 18q21.1
8q24.21
11q23.1
SMAD7
POU5FIP1, HsG57825, DQ515897
Intergenic
rs4939827-T
rs7014346-A
rs3802842-C
0.17
0.18
0.43
8 x 10-28
9 x 10-26
6 x 10-10
1.2 [1.16-1.24]
1.19 [1.15-1.23]
1.11 [1.08-1.15]
Illumina
[541,628]
N
11/25/08 Tomlinson
March 30, 2008
Nat Genet
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosome 10p14 and 8q23.3
Colorectal cancer 922 cases, 927 controls 17,872 cases, 17,526 controls 8q23.3
10p14
8q24.21
15q13.3
18q21.1
EIF3H
Intergenic
Intergenic
Intergenic
SMAD7
rs16892766-A
rs10795668-A
rs6983267-?
rs4779584-?
rs4939827-?
0.07
0.67
0.48
0.19
0.53
3 x 10-18
3 x 10-13
7 x 10-11
5 x 10-7
2 x 10-6
1.27 [1.20-1.34]
1.12 [1.10-1.16]
1.24 [1.17-1.33]
1.23 [1.14-1.34]
1.18 [1.10-1.25]
Illumina
[547,647]
N
11/25/08 Zeggini
March 30, 2008
Nat Genet
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
Type 2 diabetes 4,549 cases, 5,579 controls 24,194 cases, 55,598 controls 10q25.2
7p15.1
6p22.3
10p13
12q21.1
2p21
3p14.1
1p12
10q23.33
3q27.2
12q13.2
3p25.2
9p21.3
11p15.1
6p21.1
16q12.2
TCF7L2
JAZF1
CDKAL1
CDC123,CAMK1D
TSPAN8,LGR5
THADA
ADAMTS9
NOTCH2, ADAM30
HHEX
IGF2BP2
DCD
SYN2, PPARG
CDKN2A,CDKN2B
KCNJ11
VEGFA
FTO
rs7903146-T
rs864745-T
rs6931514-G
rs12779790-G
rs7961581-C
rs7578597-T
rs4607103-C
rs10923931-T
rs5015480-C
rs4402960-T
rs1153188-A
rs17036101-G
rs7020996-C
rs5215-C
rs9472138-T
rs8050136-A
NR
0.50
NR
0.18
0.27
0.90
0.76
0.11
NR
NR
0.73
0.93
NR
NR
0.28
NR
3 x 10-23
5 x 10-14
1 x 10-11
1 x 10-10
1 x 10-9
1 x 10-9
1 x 10-8
4 x 10-8
7 x 10-8
8 x 10-8
2 x 10-7
2 x 10-7
2 x 10-7
4 x 10-7
4 x 10-6
7 x 10-6
1.37 [1.28-1.47]
1.1 [1.07-1.13]
1.25 [1.17-1.33]
1.11 [1.07-1.14]
1.09 [1.06-1.12]
1.15 [1.10-1.20]
1.09 [1.06-1.12]
1.13 [1.08-1.17]
1.17 [1.11-1.24]
1.17 [1.10-1.25]
1.08 [1.05-1.11]
1.15 [1.10-1.21]
1.26 [1.15-1.38]
1.16 [1.09-1.23]
1.06 [1.04-1.09]
1.15 [1.09-1.22]
Affymetrix and Illumina
[2,202,892] (imputed)
N
11/25/08 Butcher
March 25, 2008
Behav Genet
The Nature of Nuture: A Genomewide Association Scan for Family Chaos
Environmental confusion in the home 469 children from low chaos families,369 children from high chaos families 3,529 children NS NS NS NS NS NS Affymetrix
[117,062] (pooled)
N
11/25/08 Capon
March 25, 2008
Hum Mol Genet
Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene
Psoriasis 318 cases, 288 controls 2,361 cases, 1,927 controls 6p21.33
20q13.13
HLA-C
SPATA2
rs3134792-?
rs495337-?
NR
NR
1 x 10-9
1 x 10-8
NR
1.25 [1.12-1.39]
Illumina
[~408,000] (pooled)
N
11/25/08 Sullivan
March 18, 2008
Mol Psychiatry
Genomewide association for schizophrenia in the CATIE study: results of stage 1
Schizophrenia 738 cases, 733 controls NR 15q25.3
1q31.1
1p36.22
13q12.2
16p12.2
Xq28
AGBL1
Intergenic
Intergenic
Intergenic
ACSM1, BUCS1
Intergenic
rs16977195-?
rs10911902-?
rs4846033-?
rs9512730-?
rs151222-?
rs2159767-?
0.03
0.17
0.01
0.26
0.08
0.62
2 x 10-6
2 x 10-6
4 x 10-6
5 x 10-6
6 x 10-6
7 x 10-6
6.01 [NR]
1.79 [NR]
2.87 [NR]
1.52 [NR]
2.1 [NR]
1.33 [NR]
Affymetrix
[492,900]
N
11/25/08 Gold
March 11, 2008
Proc Natl Acad Sci USA
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33
Breast cancer 249 cases, 299 controls (Ashkenazi Jewish, non-BRCA1/2 carriers) 1,193 cases, 1,166 controls (Ashkenazi Jewish, non-BRCA1/2 carriers) 6q22.33 ECHDC1,RNF146 rs2180341-G 0.21 3 x 10-8 1.41 [1.25-1.59] Affymetrix
[150,080]
N
11/25/08 Kirov
March 11, 2008
Mol Psychiatry
A genome-wide association study in 574 schizophrenia trios using DNA pooling
Schizophrenia 574 cases, 605 controls, 1,148 parents of cases NR 12q24.23 CCDC60 rs11064768-A 0.91 1 x 10-6 NR Illumina
[~550,000] (pooled)
N
11/25/08 Doring
March 09, 2008
Nat Genet
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects
Serum urate 1,644 individuals 9,947 individuals 4p16.1 SLC2A9 rs7442295-C 0.40 3 x 10-70 .35 [NR] mg/dl decrease in uric acid Affymetrix
[335,152]
N
11/25/08 Vitart
March 09, 2008
Nat Genet
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout
Serum urate 794 individuals 706 individuals 4p16.1 SLC2A9 rs737267-C 0.31 3 x 10-9 .88 [NR] uM decrease in uric acid [females only] Illumina
[308,140]
N
11/25/08 Liu
March 05, 2008
Hum Mol Genet
Genome-wide association scans identified CTNNBL1 as a novel gene for obesity
Obesity 1,000 individuals 896 obese individuals, 2,916 lean individuals NS NS NS NS NS NS Affymetrix
[379,319]
N
11/25/08 Sklar
March 04, 2008
Mol Psychiatry
Whole-genome association study of bipolar disorder
Bipolar disorder 1,461 cases, 2,008 controls 409 trios, 365 cases, 351 controls NS NS NS NS NS NS Affymetrix
[372,193]
N
11/25/08 Hunt
March 02, 2008
Nat Genet
Newly identified genetic risk variants for celiac disease related to the immune response
Celiac disease 767 cases, 1,422 controls 1,643 cases, 3,406 controls 4q27
1q31.2
3q25.33
2q12.1
3q28
6q25.3
12q24.12
3p21.31
KIAA1109, ADAD1, IL2, IL21
RGS1
IL12A, SCHIP1
IL1RL1,IL18R1,IL18RAP, SLC9A4
LPP
TAGAP
SH2B3, ATXN2
CCR1, CCR3
rs6822844-C
rs2816316-C
rs17810546-G
rs13015714-C
rs1464510-A
rs1738074-A
rs653178-G
rs6441961-A
0.81
NR
NR
NR
NR
NR
0.48
0.30
3 x 10-13
3 x 10-11
1 x 10-9
4 x 10-9
5 x 10-9
7 x 10-8
8 x 10-8
3 x 10-7
1.44 [1.30-1.58]
1.39 [1.26-1.53]
1.35 [1.23-1.49]
1.28 [1.18-1.39]
1.23 [1.15-1.32]
1.21 [1.13-1.30]
1.21 [1.13-1.30]
1.21 [1.13-1.30]
Illumina
[310,605]
N
11/25/08 Uhl
March 01, 2008
Arch Gen Psychiatry
Genome-wide association for methamphetamine dependence: convergent results from 2 samples
Methamphetamine dependence 240 cases, 340 controls NR NS NS NS NS NS NS Affymetrix
[up to 466,883] (pooled)
N
11/25/08 Blauw
February 29, 2008
Lancet Neurol
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen
Amyotrophic lateral sclerosis 406 cases, 404 controls NR Pending Pending Pending Pending Pending Pending Illumina
[317,503]
Y
11/25/08 Shifman
February 15, 2008
PLoS Genet
Genome-Wide Association Identifies a Common Variant in the Reelin Gene That Increases the Risk of Schizophrenia Only in Women
Schizophrenia 660 cases, 2,271 controls 2,274 cases, 4,401 controls 7q22.1 RELN rs7341475-G 0.62 9 x 10-7 1.58 [1.31-1.89] Affymetrix
[510,552]
N
11/25/08 Eeles
February 10, 2008
Nat Genet
Multiple newly identified loci associated with prostate cancer susceptibility
Prostate cancer 1,854 cases, 1,894 controls 3,268 cases, 3,366 controls 10q11.23
19q13.33
8q24.21
8q24.21
11q13.2
17q12
6q25.3
7q21.3
Xp11.22
3p12.1
8q24.21
17q24.3
MSMB
KLK3
Intergenic
Intergenic
Intergenic
HNF1B
SLC22A3
LMTK2
NUDT10, NUDT11
SLC22A3
Intergenic
Intergenic
rs10993994-T
rs2735839-G
rs4242384-C
rs6983267-G
rs7931342-G
rs7501939-C
rs9364554-T
rs6465657-C
rs5945619-C
rs2660753-T
rs1016343-T
rs1859962-G
0.40
0.85
0.09
0.49
0.51
0.57
0.29
0.46
0.36
0.11
0.18
0.46
9 x 10-29
2 x 10-18
3 x 10-16
9 x 10-13
2 x 10-12
9 x 10-12
6 x 10-10
1 x 10-9
2 x 10-9
3 x 10-8
1 x 10-7
1 x 10-6
1.25 [1.17-1.34]
1.2 [1.10-1.33]
1.88 [NR]
1.42 [NR]
1.19 [1.11-1.27]
1.41 [NR]
1.17 [1.08-1.26]
1.12 [1.05-1.20]
1.19 [1.07-1.31]
1.18 [1.06-1.31]
1.37 [NR]
1.26 [NR]
Illumina
[541,129]
N
11/25/08 Gudmundsson
February 10, 2008
Nat Genet
Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer
Prostate cancer 1,854 cases, 21,372 controls 8,239 cases, 7,590 controls Xp11.22
2p15
NUDT10, NUDT11, LOC340602, GSPT2, MAGED1
EHBP1
rs5945572-A
rs721048-A
0.35
0.19
4 x 10-13
8 x 10-9
1.23 [1.16-1.30]
1.15 [1.10-1.21]
Illumina
[310,520]
N
11/25/08 Thomas
February 10, 2008
Nat Genet
Multiple loci identified in a genome-wide association study of prostate cancer
Prostate cancer 1,172 cases, 1,157 controls 3,941 cases, 3,964 controls 8q24.21
10q11.23
8q24.21
17q12
11q13.2
10q26.13
7p15.2
Intergenic
MSMB
Intergenic
HNF1B
Intergenic
CTBP2
JAZF1
rs4242382-A
rs10993994-T
rs6983267-G
rs4430796-A
rs10896449-G
rs4962416-C
rs10486567-G
0.12
0.40
0.53
0.54
0.52
0.27
0.77
3 x 10-19
7 x 10-13
7 x 10-12
1 x 10-9
2 x 10-9
2 x 10-7
2 x 10-6
1.66 [1.47-1.87]
1.16 [1.04-1.29]
1.28 [1.15-1.45]
1.18 [1.04-1.32]
1.1 [0.98-1.23]
1.17 [1.05-1.30]
1.12 [1.02-1.25]
Illumina
[527,869]
N
11/25/08 Sandhu
February 09, 2008
Lancet
LDL-cholesterol concentrations: a genome-wide association study
LDL cholesterol 11,685 individuals 5,036 individuals 1p13.3
19q13.32
2p24.1
CELSR2,PSRC1
APOC1
APOB
rs599839-G
rs4420638-G
rs562338-T
0.19
0.18
0.20
1 x 10-33
1 x 10-20
1 x 10-9
.16 [0.14-0.18] mmol/L decrease
.06 [0.04-0.08] mmol/L increase
.04 [0.02-0.06] mmol/L decrease
Affymetrix and Illumina
[up to 461,986]
N
11/25/08 Uda
February 05, 2008
Proc Natl Acad Sci USA
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
Fetal hemoglobin levels 4,305 individuals 521 individuals 2p15
11p15.4
BCL11A
HBB
rs1186868-T
rs4910742-A
0.20
0.07
7 x 10-35
1 x 10-21
.48 [NR] SD decrease in HbF
.58 [NR] SD decrease in HbF
Affymetrix
[362,129]
N
11/25/08 Kong
February 02, 2008
Science
Sequence Variants in the RNF212 Gene Associate with Genomewide Recombination Rate
Recombination rate (females) 1,702 women 1,663 women 4p16.3 RNF212,SPON2 rs1670533-C 0.23 (men and women combined) 2 x 10-12 88.2 [63.7-112.7] cM increase Illumina
[309,241]
N
11/25/08 " Recombination rate (males) 1,887 men 1,248 men 4p16.3 RNF212,SPON2 rs3796619-T 0.33 (men and women combined) 3 x 10-24 70.7 [84.3-57.1] cM decrease Illumina
[309,241]
N
12/11/08 Berrettini
January 29, 2008
Mol Psychiatry
Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking
Nicotine dependence 7,481 individuals ~2000 individuals NS NS NS NS NS NS Affymetrix
[460,959]
N
11/25/08 Kayser
January 24, 2008
Am J Hum Genet
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
Iris color 1,406 individuals 8,273 individuals 15q13.1 HERC2 rs916977-? NR 1 x 10-43 NR Affymetrix and Illumina
[up to ~500,000] (pooled)
N
11/25/08 Butcher
January 22, 2008
Genes Brain Behav
Genome-wide quantitative trait locus association scan of general cognitive ability using pooled DNA and 500K single nucleotide polymorphism microarrays
General cognitive ability 458 low g, 402 high g twin children (unrelated) 3,195 twin children (unrelated) NS NS NS NS NS NS Affymetrix
[449,127]
N
11/25/08 Harley
January 20, 2008
Nat Genet
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci
Systemic lupus erythematosus 720 female cases, 2,337 female controls 1,846 female cases, 1,825 female controls 6p21.33
16p11.2
7q32.1
11p15.5
3p14.3
1q25.1
HLA region
ITGAM
IRF5, TNPO3
KIAA1542
PXK
Intergenic
rs3131379-A
rs9888739-T
rs12537284-A
rs4963128-?
rs6445975-C
rs10798269-?
0.1
0.13
0.13
0.34
0.28
0.64
2 x 10-52
2 x 10-23
4 x 10-19
3 x 10-10
7 x 10-9
1 x 10-7
2.36 [2.11-2.64]
1.62 [1.47-1.78]
1.54 [1.40-1.70]
1.28 [1.18-1.37]
1.25 [1.16-1.35]
1.22 [1.14-1.32]
Illumina
[317,501]
N
11/25/08 Hom
January 20, 2008
N Engl J Med
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX
Systemic lupus erythematosus 1,311 cases, 3,340 controls 793 cases, 857 controls 6p21.32
2q32.3
7q32.1
16p11.2
8p23.1
9q34.13
5p12
18q22.3
1p31.3
HLA-DQA1
STAT4
IRF5, TNPO3
ITGAM, ITGAX
C8orf13, BLK
NTNG2
GHR
SOCS6
NEGR1
rs2187668-A
rs7574865-T
rs10488631-C
rs11574637-C
rs13277113-A
rs11243676-A
rs979233-T
rs17083844-A
rs12141391-A
0.11
0.23
0.12
0.19
0.23
0.07
0.46
0.03
0.02
3 x 10-21
9 x 10-14
2 x 10-11
3 x 10-11
1 x 10-10
3 x 10-6
4 x 10-6
6 x 10-6
7 x 10-6
NR
NR
NR
1.33 [1.22-1.46]
1.39 [1.28-1.51]
NR
NR
NR
NR
Illumina
[502,033]
N
11/25/08 Kozyrev
January 20, 2008
Nat Genet
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
Systemic lupus erythematosus 279 cases, 515 controls 1,757 cases, 1,540 controls 4q24 BANK1 rs10516487-G 0.77 4 x 10-10 1.38 [1.25-1.53] Affymetrix
[85,042]
N
11/25/08 Hakonarson
January 15, 2008
Diabetes
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study
Type 1 diabetes 467 trios, 561 cases, 1,143 controls 549 families, 364 trios 12q13.2 RAB5B, SUOX, IKZF4, ERBB3, CDK2 rs1701704-C 0.35 9 x 10-10 1.25 [1.12-1.40] Illumina
[543,071]
N
11/25/08 Byun
January 14, 2008
Arch Neurol
Genome-Wide Pharmacogenomic Analysis of the Response to Interferon Beta Therapy in Multiple Sclerosis
Response to interferon beta therapy 206 multiple sclerosis cases NR NS NS NS NS NS NS Affymetrix
[~100,000] (pooled)
N
11/25/08 Kathiresan
January 13, 2008
Nat Genet
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
HDL cholesterol 2,758 individuals 18,544 individuals 16q13
15q22.1
8p21.3
1q42.13
9q31.1
18q21.1
CETP
LIPC
LPL
GALNT2
ABCA1
LIPG, ACAA2
rs1800775-C
rs1800588-T
rs328-G
rs4846914-G
rs3890182-A
rs2156552-A
0.51
0.21
0.09
0.40
0.13
0.18
1 x 10-73
2 x 10-32
9 x 10-23
2 x 10-13
3 x 10-10
2 x 10-7
.18 [0.16-0.20]% SD lower
.14 [0.12-0.16]% SD higher
.17 [0.13-0.21]% SD higher
.07 [0.05-0.09] % SD lower
.1 [0.06-0.14]% SD lower
.07 [0.05-0.09]% SD lower
Affymetrix
[389,878]
N
11/25/08 " LDL cholesterol 2,758 individuals 18,544 individuals 19q13.32
19p13.2
1p32.3
1p13.3
2p24.1
5q13.3
19p13.11
APOE, APOC1, APOC4, APOC2
LDLR
PCSK9
CELSR2,PSRC1,SORT1
APOB
HMGCR
CILP2, PBX4
rs4420638-G
rs6511720-T
rs11591147-T
rs646776-C
rs693-A
rs12654264-T
rs16996148-T
0.20
0.10
0.01
0.24
0.48
0.39
0.10
1 x 10-60
2 x 10-51
2 x 10-44
3 x 10-29
1 x 10-21
1 x 10-20
3 x 10-8
.19 [0.15-0.23] % SD higher
.26 [0.22-0.30] % SD lower
.47 [0.41-0.53] % SD lower
.16 [0.14-0.18] % SD lower
.12 [0.10-0.14] % SD higher
.1 [0.08-0.12] % SD higher
.1 [0.06-0.14] % SD lower
Affymetrix
[389,878]
N
11/25/08 " Triglycerides 2,758 individuals 18,544 individuals 8p21.3
7q11.23
11q23.3
8q24.13
1q42.13
2p23.3
19p13.11
1p31.3
2p24.1
LPL
BCL7B, TBL2, MLXIPL
APOA1, APOC3, APOA4, APOA5, ZNF259, BUD13
TRIB1
GALNT2
GCKR
CILP2, PBX4
ANGPTL3, DOCK7, ATG4C
APOB
rs328-G
rs17145738-T
rs28927680-G
rs17321515-G
rs4846914-G
rs780094-T
rs16996148-T
rs12130333-T
rs693-A
0.09
0.13
0.07
0.49
0.40
0.34
0.10
0.22
0.48
2 x 10-28
7 x 10-22
2 x 10-17
4 x 10-17
7 x 10-15
3 x 10-14
4 x 10-9
2 x 10-8
2 x 10-7
.19 [0.15-0.23]% SD lower
.14 [0.25-0.53] % SD lower
.26 [0.20-0.32]% SD higher
.08 [0.06-0.10] % SD lower
.08 [0.06-0.10] % SD higher
.13 [0.09-0.17]% SD higher
.1 [0.06-0.14] % SD lower
.11 [0.07-0.15] % SD lower
.08 [0.04-0.12]% SD higher
Affymetrix
[389,878]
N
11/25/08 Kooner
January 13, 2008
Nat Genet
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
Triglycerides 2,011 individuals 10,536 individuals 11q23.3
8p21.3
7q11.23
11q23.3
LOC440069, MGC13125
LPL, C8orf35, SLC18A1
MLXIPL
APOA1,KIAA0999,LOC645044
rs1558861-C
rs326-A
rs3812316-C
rs2075292-G
0.18
0.78
0.95
0.24
2 x 10-26
5 x 10-12
1 x 10-10
5 x 10-8
17 [13.28-20.72] % higher
6.6 [3.66-9.54] % higher
10.5 [5.3-17.7]% higher
8.7 [5.76-11.64] % higher
Perlegen
[up to 216,774]
N
11/25/08 Sanna
January 13, 2008
Nat Genet
Common variants in the GDF5-UQCC region are associated with variation in human height
Height 6,669 individuals 28,801 individuals 20q11.22
4q12
15q26.1
3q23
5q14.1
BFZB
PDGFRA
POLG
ZBTB38
HOMER1
rs6060369-C
rs17690232-C
rs4932217-A
rs724016-G
rs10078095-C
0.44
0.80
0.58
0.36
0.22
2 x 10-16
4 x 10-7
8 x 10-7
1 x 10-6
3 x 10-6
.44 [NR] cm taller
.86 [NR] cm taller
.66 [NR] cm taller
.61 [NR] cm taller
.9 [NR] cm taller
Illumina and Affymetrix
[~2,261,000] (imputed)
N
11/25/08 Willer
January 13, 2008
Nat Genet
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
HDL cholesterol 8,656 individuals 11,399 individuals 16q13
16q13
16q13
15q22.1
8p21.3
1q42.13
18q21.1
9q31.1
12q24.11
16q22.1
CETP
CETP
CETP
LIPC
LPL
GALNT2
LIPG
ABCA1
MVK,MMAB
LCAT
rs3764261-A
rs1864163-G
rs9989419-G
rs4775041-C
rs10503669-A
rs2144300-T
rs2156552-T
rs4149268-C
rs2338104-G
rs255052-A
0.31
0.80
0.65
0.33
0.10
0.60
0.84
0.64
0.45
0.17
2 x 10-57
7 x 10-39
3 x 10-31
3 x 10-20
4 x 10-19
3 x 10-14
6 x 10-12
1 x 10-10
3 x 10-8
1 x 10-7
3.47 [NR] mg/dl higher
4.12 [NR] mg/dl higher
1.72 [NR] mg/dl higher
1.38 [NR] mg/dl higher
2.09 [NR] mg/dl higher
1.11 [NR] mg/dl higher
1.2 [NR] mg/dl higher
.82 [NR] mg/dl higher
.48 [NR] mg/dl higher
.74 [NR] mg/dl higher
Illumina and Affymetrix
[~2,261,000] (imputed)
N
11/25/08 " LDL cholesterol 8,589 individuals 7,440-10,783 individuals 19q13.32
1p13.3
19p13.2
2p24.1
1p32.3
19p13.11
6p21.32
APOE,APOC1,APOC4
CELSR2,PSRC1,SORT1
LDLR
APOB
PCSK9
NCAN,CILP2
B3GALT4
rs4420638-G
rs599839-A
rs6511720-G
rs562338-G
rs11206510-T
rs16996148-G
rs2254287-G
0.18
0.77
0.90
0.82
0.81
0.89
0.38
3 x 10-43
6 x 10-33
4 x 10-26
6 x 10-22
4 x 10-11
3 x 10-9
5 x 10-8
6.61 [NR] mg/dl higher
5.48 [NR] mg/dl higher
9.17 [NR] mg/dl higher
4.89 [NR] mg/dl higher
3.04 [NR] mg/dl higher
3.32 [NR] mg/dl higher
1.91 [NR] mg/dl higher
Illumina and Affymetrix
[~2,261,000] (imputed)
N
11/25/08 " Triglycerides 8,684 individuals 5,312-9,707 individuals 2p23.3
11q23.3
8p21.3
8q24.13
7q11.23
1p31.3
19p13.3
15q22.1
1q42.13
GCKR
APOA5, APOA4, APOC3, APOA1
LPL
TRIB1
MLXIPL
ANGPTL3
NCAN,CILP2
LIPC
GALNT2
rs780094-T
rs12286037-T
rs10503669-C
rs17321515-A
rs17145738-C
rs1748195-C
rs16996148-G
rs4775041-C
rs2144300-C
0.39
0.06
0.90
0.56
0.84
0.70
0.92
0.33
0.40
6 x 10-32
1 x 10-26
4 x 10-22
7 x 10-13
2 x 10-12
2 x 10-10
3 x 10-9
2 x 10-8
8 x 10-7
8.59 [NR] mg/dl higher
25.82 [NR] mg/dl higher
11.57 [NR] mg/dl higher
6.42 [NR] mg/dl higher
8.21 [NR] mg/dl higher
7.12 [NR] mg/dl higher
6.1 [NR] mg/dl higher
3.62 [NR] mg/dl higher
4.25 [NR] mg/dl higher
Illumina and Affymetrix
[~2,261,000]] (imputed)
N
11/25/08 Wallace
January 10, 2008
Am J Hum Genet
Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia
LDL cholesterol 1,955 hypertensive individuals 2,033 individuals in 519 families; 1,461 twins (1/pair selected randomly) 11q23.3
1p13.3
2p23.3
APOA1,APOC3,APOA5
CELSR2,PSRC1
GCKR
rs6589566-G
rs599839-G
rs780094-T
0.06
0.24
0.39
3 x 10-11
1 x 10-7
5 x 10-7
NR
.95 [0.93-0.97]
NR
Affymetrix
[400,496]
N
11/25/08 " Serum urate 1,955 hypertensive individuals 2,033 individuals in 519 families; 1,461 twins (1/pair selected randomly) 4p16.1 SLC2A9,WDR1 rs7442295-A 0.79 2 X 10-15 .02 [0.02-0.03] mMol/L higher Affymetrix
[400,496]
N
11/25/08 Hinney
December 26, 2007
PLoS ONE
Genome Wide Association (GWA) Study for Early Onset Extreme Obesity Supports the Role of Fat Mass and Obesity Associated Gene (FTO) Variants
Obesity (early onset extreme) 487 young cases, 442 controls 2,269 individuals in 644 families 16q12.2 FTO rs1121980-T 0.41 1 x 10-7 1.66 [1.37-2.01] Affymetrix
[440,794]
N
11/25/08 Duggan
December 19, 2007
J Natl Cancer Inst
Two genome-wide association studies of aggressive prostate cancer implicate putative prostate tumor suppressor gene DAB2IP
Prostate cancer 1,235 cases, 1,599 controls 1,242 cases, 917 controls NS NS NS NS NS NS Illumina & Affymetrix
[60,275]
N
11/25/08 van Es
December 16, 2007
Nat Genet
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis 737 cases, 721 controls 1,030 cases, 1,195 controls 7q36.2
15q22.1
2p24.2
DPP6
LIPC
Intergenic
rs10260404-C
rs3825776-?
rs7580332-?
0.35
0.29
0.45
5 x 10-8
9 x 10-6
9 x 10-6
1.3 [1.18-1.43]
1.34 [1.20-1.46]
1.22 [1.09-1.35]
Illumina
[311,946]
N
11/25/08 Cronin
December 07, 2007
Hum Mol Genet
A genome-wide association study of sporadic ALS in a homogenous Irish population
Amyotrophic lateral sclerosis 221 cases, 211 controls 737 cases, 721 controls 7q36.2 DPP6 rs10260404-? 0.37 3 x 10-6 1.37 [1.20-1.56] Illumina
[497,917]
N
11/25/08 Suzuki
November 17, 2007
Pharmacogenet Genomics
A novel genetic marker for coronary spasm in women from a genome-wide single nucleotide polymorphism analysis
Coronary spasm 50 Japanese female cases, 50 Japanese female controls 151 Japanese female cases, 160 Japanese female controls 14q21.1 Intergenic rs10498345-T 0.30 9 x 10-7 2.33 [1.64-3.23] Affymetrix
[97,552]
N
11/25/08 Li
November 12, 2007
Arch Neurol
Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease
Alzheimer's disease 753 cases, 736 controls 418 cases, 249 controls 19q13.32 APOE, APOC rs4420638-? NR 2 x 10-44 NR Affymetrix
[469,438]
N
11/25/08 Li
November 09, 2007
PLoS Genet
The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts
Serum urate 4,305 Sardinian individuals 1,301 Tuscan individuals 4p16.1 GLUT9 rs6855911-A 0.74 2 x 10-16 .32 [NR] mg/dl higher Affymetrix
[362,129]
N
11/25/08 Plenge
November 04, 2007
Nat Genet
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis
Rheumatoid arthritis 397 cases, 1,211 Framingham individuals 2,283 cases, 3,258 controls 6q23.3
6q23.3
TNFAIP3, OLIG3
TNFAIP3, OLIG3
rs10499194-C
rs6920220-?
0.71
0.20
1 x 10-9
1 x 10-7
1.33 [1.15-1.52]
1.22 [NR]
Affymetrix
[79,853]
N
11/25/08 Webster
November 01, 2007
Neurodegener Dis
Sorl1 as an Alzheimer's disease predisposition gene?
Alzheimer's disease 664 cases, 422 controls NR 19q13.32 APOE rs4420638-? NR 1 x 10-39 NR Affymetrix
[~502,627]
N
11/25/08 Sulem
October 21, 2007
Nat Genet
Genetic determinants of hair, eye and skin pigmentation in Europeans
Blond vs. brown hair color 2,986 individuals 3,932 individuals 14q32.12
15q13.1
12q21.33
16q24.3
SLC24A4
OCA2
KITLG
MC1R
rs12896399-T
rs1667394-A
rs12821256-C
rs1805007-T
0.44
0.88
0.14
0.08
1 x 10-48
6 x 10-35
4 x 10-30
2 x 10-13
2.56 [2.12-3.09]
4.94 [3.16-7.71]
2.32 [1.86-2.92]
2.34 [1.69-3.24]
Illumina
[317,511]
N
02/16/09 " Blue vs. brown eyes 2,986 individuals 3,932 individuals 15q13.1 OCA2 rs1667394-A 0.88 1 x 10-241 29.43 [21.47-40.35] Illumina
[317,511]
N
11/25/08 " Blue vs. green eyes 2,986 individuals 3,932 individuals 15q13.1
14q32.12
11q14.3
OCA2
SLC24A4
TYR
rs1667394-A
rs12896399-T
rs1393350-A
0.98
0.40
0.23
2 x 10-53
4 x 10-38
3 x 10-12
6.74 [4.61-9.83]
2.06 [1.76-2.42]
1.52 [1.28-1.81]
Illumina
[317,511]
N
11/25/08 " Freckles 2,986 individuals 3,932 individuals 16q24.3
6p25.3
11q14.3
MC1R
SEC5L1,IRF4
TYR
rs1805007-T
rs1540771-A
rs1042602-C
0.05
0.42
0.67
1 x 10-96
4 x 10-18
2 x 10-11
4.37 [3.56-5.37]
1.4 [1.26-1.57]
1.32 [1.17-1.49]
Illumina
[317,511]
N
02/16/09 " Red vs non-red hair color 2,986 individuals 3,932 individuals 16q24.3 MC1R rs1805007-T NR 2 x 10-142 12.47 [9.37-16.60] Illumina
[317,511]
N
02/16/09 " Skin sensitivity to sun 2,986 individuals 3,932 individuals 16q24.3
11q14.3
MC1R
TYR
rs1805007-T
rs1393350-A
0.06
0.27
2 x 10-55
2 x 10-6
2.94 [2.42-3.58]
1.26 [1.11-1.43]
Illumina
[317,511]
N
11/25/08 Stokowski
October 15, 2007
Am J Hum Genet
A genomewide association study of skin pigmentation in a South Asian population
Skin pigmentation 363 with maxL* < 56 and 374 with maxL* > 63; 20% tails of distribution 116 low maxL*, 115 high maxL* individuals 15q21.1
5p13.3
11q14.3
SLC24A5
SLC45A2
TYR
rs1834640-G
rs16891982-C
rs1042602-C
0.08
0.83
0.84
1 x 10-50
3 x 10-11
4 x 10-10
12.5 [8.33-20.0]
4.86 [2.88-8.21]
4.36 [2.64-7.20]
Perlegen
[1,502,205] (pooled)
N
11/25/08 Broderick
October 14, 2007
Nat Genet
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
Colorectal cancer 940 cases, 965 controls 7,473 cases, 5,984 controls 18q21.1 SMAD7 rs4939827-T 0.52 1 x 10-12 1.16 [1.09-1.27] Illumina
[547,647]
N
11/25/08 Cervino
October 08, 2007
Ann NY Acad Sci
A genome-wide study of lupus: preliminary analysis and data release
Lupus 51 cases, 114 controls NR NS NS NS NS NS NS Affymetrix
[241,701]
N
11/25/08 Benjamin
September 19, 2007
BMC Med Genet
Genome-wide association with select biomarker traits in the Framingham Heart Study
Select biomarker traits 1,012 individuals (Framingham) NR 1q23.2
1q23.2
1q23.2
1p31.1
19q12
10q26.2
15q21.3
4q31.1
5q23.2
6q15
1q23.2
9q21.32
10q21.1
13q14.11
6q21
7p13
1q23.2
11q23.2
13q21.1
7p21.3
14q23.2
FCER1A,OR10J3
OR10J1
CRP
Intergenic
ZNF536
PTPRE, MKI67
Intergenic
CLGN, ELMOD2
Intergenic
Intergenic
IGSF4B
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
IGSF4B
DRD2
Intergenic
Intergenic
Intergenic
rs2494250-?
rs4128725-?
rs2794520-?
rs7552393-?
rs746961-?
rs2387326-?
rs10518765-?
rs17532515-?
rs1119582-?
rs10485165-?
rs10489849-?
rs1998303-?
rs583012-?
rs10492681-?
rs1417352-?
rs1486139-?
rs1474747-?
rs1079596-?
rs10507577-?
rs7778619-?
rs8005745-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
1 x 10-14 (MCP1)
4 x 10-12 (MCP1)
3 x 10-8 (CRP average 2,6,7)
5 x 10-7 (TNFA)
8 x 10-7 (CRP6)
1 x 10-6 (VitKPhylloq)
1 x 10-6 (AlkPhos)
1 x 10-6 (Bilirubin)
1 x 10-6 (CRP average 2,6,7)
1 x 10-6 (VitD25OH)
1 x 10-6 (MCP1)
1 x 10-6 (AAT)
2 x 10-6 (CRP2)
2 x 10-6 (ALT2)
2 x 10-6 (ANP6)
2 x 10-6 (ANP6)
3 x 10-6 (MCP1)
3 x 10-6 (ANP6)
3 x 10-6 (VitD25OH)
3 x 10-6 (CD40L)
4 x 10-6 (CD40L)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Fox
September 19, 2007
BMC Med Genet
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project
Body mass index 1,341 individuals (Framingham) NR 7q32.3
7q23.3
13q21.32
Intergenic
Intergenic
Intergenic
rs1106683-?
rs1106684-?
rs1333026-?
NR
NR
NR
1 x 10-7
2 x 10-6
8 x 10-6
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Waist circumference traits 1,341 individuals (Framingham) NR 8q21.1
3q13.31
GDAP1
Intergenic
rs4471028-?
rs1875517-?
NR
NR
2 x 10-7
2 x 10-6
NR
NR
Affymetrix
[70,897]
N
11/25/08 Gottlieb
September 19, 2007
BMC Med Genet
Genome-wide association of sleep and circadian phenotypes
Sleep duration 738 individuals (Framingham) NR 3p22.1
13q21.2
MYR1P
Intergenic
rs6599077-?
rs10492604-?
NR
NR
1 x 10-7
4 x 10-6
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Sleepiness 738 individuals (Framingham) NR 5q11.2
8q13.3
PDE4D
EYA1
rs1823068-?
rs2218488-?
NR
NR
3 x 10-8 (sleepiness)
3 x 10-6 (sleepiness)
NR
NR
Affymetrix
[70,897]
N
11/25/08 Hwang
September 19, 2007
BMC Med Genet
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study
Cystatin C 810-1,010 individuals depending on measure (Framingham) NR 20p11.21 CST9L, CST9, CST3 rs1158167-? NR 9 x 10-9 NR Affymetrix
[70,897]
N
11/25/08 " Thyroid stimulating hormone 810-1,010 individuals depending on measure (Framingham) NR 7p15.3
6q21
7p15.3
Intergenic
HACE1
RAPGEF5
rs6977660-?
rs9322817-?
rs10499559-?
NR
NR
NR
4 x 10-6
7 x 10-6
8 x 10-6
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Urinary albumin excretion 810-1,010 individuals depending on measure (Framingham NR 11q23.2
21q21.3
FAM55B
Intergenic
rs1712790-?
rs9305354-?
NR
NR
2 x 10-6
8 x 10-6
NR
NR
Affymetrix
[70,897]
N
11/25/08 Kathiresan
September 19, 2007
BMC Med Genet
A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study
Blood lipid traits 1,087 individuals (Framingham) ~8,100 individuals NS NS NS NS NS NS Affymetrix
[70,897]
N
11/25/08 Kiel
September 19, 2007
BMC Med Genet
Genome-wide association with bone mass and geometry in the Framingham Heart Study
Bone mineral density 1,141 individuals (Framingham) NR 13q21.31
16q23.3
10p15.2
12q21.1
20q11.23
4p16.1
3p24.1
7q35
Intergenic
Intergenic
Intergenic
Intergenic
CTNNBL1
Intergenic
RBMS3
CNTNAP2
rs9317284-?
rs4087296-?
rs2165468-?
rs10506701-?
rs4811196-?
rs9291683-?
rs10510628-?
rs2214681-?
NR
NR
NR
NR
NR
NR
NR
NR
2 x 10-7 (FNBMDm)
3 x 10-7 (TRBMDf)
1 x 10-6 (FNBMDm)
1 x 10-6 (TRBMD)
1 x 10-6 (TRBMDf)
2 x 10-6 (BUA)
3 x 10-6 (TRBMDm)
3 x 10-6 (BUA)
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Hip geometry 1,141 individuals (Framingham) NR 12q21.31
5p14.1
8p12
5q14.3
3q12.3
1p11.2
3p14.3
5q13.2
11q14.1
18q12.1
3p14.1
12p13.31
13q13.3
6p24.1
11q23.2
3p24.3
Intergenic
Intergenic
NRG1
GPR98
Intergenic
Intergenic
ERC2
ZNF366
Intergenic
Intergenic
Intergenic
VAMP1
Intergenic
PHACTR1
Intergenic
KCNH8
rs10506821-?
rs2548003-?
rs10503887-?
rs10514345-?
rs991258-?
rs6600671-?
rs2054989-?
rs10515148-?
rs1452928-?
rs4131805-?
rs922948-?
rs10492096-?
rs1590305-?
rs4715166-?
rs638882-?
rs2053506-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
2 x 10-7 (ShaftW1f)
2 x 10-7 (NeckZ1rf)
2 x 10-7 (ShaftZ1R)
2 x 10-7 (NeckZ1)
5 x 10-7 (ShaftW1)
6 x 10-7 (NeckZ1rf)
6 x 10-7 (NeckW1rf)
6 x 10-7 (NeckZ1rf)
7 x 10-7 (ShaftW1f)
2 x 10-6 (NSAm)
2 x 10-6 (ShaftW1f)
3 x 10-6 (ShaftZ1rf)
3 x 10-6 (NeckZ1rm)
3 x 10-6 (NeckW1rf)
4 x 10-6 (NeckZ1rf)
4 x 10-6 (NeckZ1)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Larson
September 19, 2007
BMC Med Genet
Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes
Atrial fibrillation 1,341-1,345 individuals, depending on measure (Framingham) NR 13q14
15q23
11q22.1
Intergenic
Intergenic
CNTN5
rs958546-?
rs4776472-?
rs10501920-?
NR
NR
NR
5x10-6
8x10-6
9x10-6
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Heart failure 1,341-1,345 individuals, depending on measure (Framingham NR 10q25.3 KIAA1598 rs740363-? NR 9 X 10-6 NR Affymetrix
[70,897]
N
11/25/08 " Major CVD 1,341-1,345 individuals, depending on measure (Framingham) NR 6p24.1 Intergenic rs499818-? NR 7x10-6 (major CVD) NR Affymetrix
[70,897]
N
11/25/08 Levy
September 19, 2007
BMC Med Genet
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness
Blood pressure 644-1,327 individuals, depending on measure (Framingham) NR 16q23.3
2q36.3
1p31.3
14q24.3
8q13.3
3p26.3
5q22.1
14q24.3
6q15
CDH13
CCL20, WDR69
Intergenic
Intergenic
Intergenic
CNTN4
CAMK4
C14orf118
Intergenic
rs3096277-?
rs7591163-?
rs10493340-?
rs935334-?
rs1963982-?
rs4370013-?
rs10491334-?
rs2121070-?
rs2509458-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
1 x 10-9 (SBPLTA)
3 x 10-7 (DBPLTA)
2x10-6 (SBP)
3x10-6 (DBP)
3x10-6 (DBP)
4 x 10-6 (DBP)
4 x 10-6 (DBP)
5 x 10-6 (DBP)
7 x 10-6 (DBP)
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Tonometry 644-1,327 individuals, depending on measure (Framingham NR 3p24.1
13q13.3
20q13.13
8p22
2q14.3
5q14.3
17p12
1q25.1
3q24
3p22.3
9q31.2
6q25.2
7q33
TGFBR2
GPC6
PREX1
VPS37A
CNTNAP5
MEF2C
HS3ST3A1
TNR
SLC9A9
Intergenic
Intergenic
SYNE1
EXOC4
rs3773643-?
rs6492654-?
rs6063312-?
rs3793427-?
rs1367248-?
rs770189-?
rs10521232-?
rs3766680-?
rs1371924-?
rs10514688-?
rs7042864-?
rs1322512-?
rs10488172-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
2 x 10-7 (MAPLTA)
2 x 10-6 (RWLTA)
2 x 10-6 (RW)
2 x 10-6 (FWLTA)
3 x 10-6 (CF-PWVLTA)
3 x 10-6 (CB-PWV)
4 x 10-6 (CF-PWVLTA)
4 x 10-6 (FWLTA)
4 x 10-6 (RWLTA)
6 x 10-6 (CB-PWV)
6 x 10-6 (CB-PWV)
8 x 10-6 (MAP)
8 x 10-6 (RWLTA)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Lunetta
September 19, 2007
BMC Med Genet
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study
Aging traits 1,345 individuals (Framingham) NR 2p12
12p11.22
11q14.3
2p12
12q24.23
2q24.1
7q21.11
1q42.3
15q25.3
3q25.31
Intergenic
Intergenic
Intergenic
Intergenic
CCDC60
GALNT13
Intergenic
GNG4
KLHL25
KCNAB1
rs10496265-?
rs1463605-?
rs1528753-?
rs10496262-?
rs7137869-?
rs958672-?
rs2371208-?
rs291353-?
rs7176093-?
rs3772255-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
1 x 10-8 (age at natural menopause)
7 x 10-8 (biologic age)
8 x 10-8 (age at death)
3 x 10-7 (age at natural menopause)
6 x 10-7 (walking speed exam 7)
2 x 10-6 (age at natural menopause)
3 x 10-6 (age at death)
6 x 10-6 (age at natural menopause)
7 x 10-6 (biologic age)
8 x 10-6 (biologic age)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Lunetta
September 19, 2007
BMC Med Genet
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.
Morbidity-free survival 1,345 individuals (Framingham) NR 1q24.2
5p15.32
6p24.3
8p22
16q21
DPT
Intergenic
Intergenic
Intergenic
Intergenic
rs1412337-?
rs32566-?
rs10484246-?
rs4831837-?
rs2639889-?
NR
NR
NR
NR
NR
2 x 10-9
2 x 10-9
8 x 10-8
5 x 10-7
9 x 10-7
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Meigs
September 19, 2007
BMC Med Genet
Genome-wide association with diabetes-related traits in the Framingham Heart Study
Diabetes (incident) 1,087 individuals (Framingham) NR 2q32.3 TMEFF2 rs10497721-? NR 7 x 10-7 NR Affymetrix
[70,897]
N
11/25/08 " Diabetes related insulin traits 1,087 individuals (Framingham) NR 14q12
14q12
7p15.1
13q21.33
Intergenic
Intergenic
CPVL
Intergenic
rs2877832-?
rs2877832-?
rs10486607-?
rs2066219-?
NR
NR
NR
NR
2 x 10-6 (FI)
3 x 10-6 (HOMA-IR)
8 x 10-6 (HbA1C)
9 x 10-6 (ISI_0-120)
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Fasting plasma glucose 1,087 individuals (Framingham) NR 8p11.21
3p24.1
4q27
4q27
5q23.3
8p11.21
ZMAT4
Intergenic
PRDM5
PRDM5
Intergenic
ZMAT4
rs2722425-?
rs10510634-?
rs180730-?
rs180730-?
rs7731657-?
rs2722425-?
NR
NR
NR
NR
NR
NR
2 x 10-8 (tFPG)
5 x 10-6 (tFPG)
5 x 10-6 (FPG)
6 x 10-6 (tFPG)
7 x 10-6 (tFPG)
9 x 10-6 (FPG)
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Murabito
September 19, 2007
BMC Med Genet
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study
Breast cancer 1,345 individuals (Framingham) NR 17q21.33
5q34
12q21.1
18q21.2
13q32.1
7q11.22
2p16.1
15q21.1
21q21.3
COL1A1
Intergenic
Intergenic
Intergenic
ABCC4
Intergenic
Intergenic
FBN1
GRIK1
rs2075555-?
rs6556756-?
rs1154865-?
rs1978503-?
rs1926657-?
rs10263639-?
rs10490113-?
rs1876206-?
rs458685-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
8 x 10-8
5 x 10-7
7 x 10-7
1 x 10-6
2 x 10-6
3 x 10-6
5 x 10-6
6 x 10-6
6 x 10-6
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Prostate cancer 1,345 individuals (Framingham) NR 13q33.1
3p22.2
5q14.3
6p12.2
3q24
Intergenic
CTDSPL
HAPLN1
PKHD1
Intergenic
rs1529276-?
rs9311171-?
rs4466137-?
rs10498792-?
rs345013-?
NR
NR
NR
NR
NR
2 x 10-6
2 x 10-6
3 x 10-6
3 x 10-6
5 x 10-6
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Newton-Cheh
September 19, 2007
BMC Med Genet
Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study
Electrocardiographic traits 548-1,175 individuals, depending on measure (Framingham) NR 2q22.1
13q12.2
Intergenic
RPL21
rs882300-?
rs10507380-?
NR
NR
3 x 10-7 (PR interval)
8 x 10-6 (QT interval)
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Heart rate variability traits 548-1,175 individuals, depending on measure (Framingham) NR 4q34
13q13.3
NEIL3
DCAMKL1
rs1395479-?
rs9315385-?
NR
NR
7x10-6 (LF/HF)
8x10-6 (TP)
NR
NR
Affymetrix
[70,897]
N
11/25/08 O'Donnell
September 19, 2007
BMC Med Genet
Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study
Coronary artery calcification 673-984 individuals, depending on measure (Framingham) NR 1p22.2
14q24.2
12q23.2
Intergenic
NUMB
DR1M
rs2390582-?
rs10483853-?
rs10507130-?
NR
NR
NR
1 x 10-6
6 x 10-6
7 x 10-6
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Subclinical atherosclerosis traits (other) 673-984 individuals, depending on measure (Framingham) NR 2q33.2
10q11.22
5p15.2
1q31.1
5p15.2
4q28.1
11q14.3
5p15.2
ABI2
LRRC18
DNAH5
Intergenic
DNAH5
Intergenic
Intergenic
DNAH5
rs1376877-?
rs3849150-?
rs2896103-?
rs1400544-?
rs7715811-?
rs1320267-?
rs1350445-?
rs1502050-?
NR
NR
NR
NR
NR
NR
NR
NR
4 x 10-7 (ICA IMT)
2 x 10-6 (AAC)
5 x 10-6 (ABI)
6 x 10-6 (CCA IMT)
6 x 10-6 (ABI)
7 x 10-6 (ABI)
9 x 10-6 (ABI)
9 x 10-6 (ABI)
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Seshadri
September 19, 2007
BMC Med Genet
Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study
Cognitive test performance 705 individuals (Framingham) NR 1p22.2
21q21.3
4q13.2
14q24.3
6p23
12q23.3
5q32
11q14.1
17q22
11q25
1q42.2
12p11.1
9q22.2
2q22.1
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
POLR3B, RFX4
Intergenic
Intergenic
PPM1E
NCAPD3
TARBP1
Intergenic
DIRAS2
Intergenic
rs2179965-?
rs2832077-?
rs1155865-?
rs2352904-?
rs6914079-?
rs3891355-?
rs9325032-?
rs530965-?
rs9303401-?
rs1031381-?
rs10489896-?
rs9300212-?
rs1831521-?
rs934299-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
1 x 10-6 (F3)
2 x 10-6 (F3)
2 x 10-6 (Nam)
2 x 10-6 (F2)
2 x 10-6 (F2)
3 x 10-6 (Sim)
3 x 10-6 (F2)
4 x 10-6 (Nam)
5 x 10-6 (NAM)
6 x 10-6 (F3)
6 x 10-6 (F2)
8 x 10-6 (WRAT)
8 x 10-6 (Nam)
9 x 10-6 (F3)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Volumetric brain MRI 705 individuals (Framingham) NR 20q13.33
11p13
11q23.2
11q22.1
4q31.3
CDH4
EHF
NNMT
CNTN5
Intergenic
rs1970546-?
rs5028798-?
rs2847476-?
rs952700-?
rs360929-?
NR
NR
NR
NR
NR
4 x 10-8 (ATCBV)
3 x 10-6 (ATBV)
3 x 10-6 (ALLV)
6 x 10-6 (AFBV)
9 x 10-6 (ALTHBV)
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Vasan
September 19, 2007
BMC Med Genet
Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study
Echocardiographic traits 1,238 individuals (Framingham) NR 4p15.31
6q15
4p15.31
8q13.3
1q31.1
2q36.1
1p31.3
5q14.3
SLIT2
SPACA1
SLIT2
KCNB2
FAM5C
Intergenic
PDE4B
Intergenic
rs1379659-?
rs366676-?
rs666088-?
rs10504543-?
rs1935881-?
rs10498091-?
rs10493389-?
rs4920799-?
NR
NR
NR
NR
NR
NR
NR
NR
1 x 10-7 (LVDD)
2 x 10-6 (LVFS)
5 x 10-6 (LVDD)
5 x 10-6 (LVSD)
6 x 10-6 (LAD)
6 x 10-6 (LVM)
7 x 10-6 (LAD)
7 x 10-6 (LVDD)
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Endothelial function traits 1,238 individuals (Framingham) NR 10q24.33 OBFC1 rs3814219-? NR 9 x 10-7 (BABF) NR Affymetrix
[70,897]
N
11/25/08 " Exercise treadmill test traits 1,238 individuals (Framingham) NR 4q25
1q43
11q22.3
8p12
NOLA1
RYR2
Intergenic
WRN
rs6847149-?
rs2819770-?
rs746463-?
rs2553268-?
NR
NR
NR
NR
3 x 10-6 (S2EHR)
4 x 10-6 (S2EHR)
5 x 10-6 (P3MRSBP)
6 x 10-6 (S2ESBP)
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Wilk
September 19, 2007
BMC Med Genet
Framingham Heart Study genome-wide association: results for pulmonary function measures
Mean forced vital capacity from 2 exams 1,097-1,222 individuals, depending on measure (Framingham) NR 7q21.3
4q25
COL1A2
Intergenic
rs441051-?
rs10516541-?
NR
NR
2 x 10-6 (meanfvc)
4 x 10-6 (meanfvc)
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Pulmonary function traits (other) 1,097-1,222 individuals, depending on measure (Framingham) NR 15q11.2
21q22.3
15q26.1
2q36.3
8q11.22
14q22.1
14q23.1
1q21.3
17p12
7q34
SNRPN
ADARB1
FLJ32831
RHBDD1
SNTG1
NID2
Intergenic
IL6R
CDRT4
Intergenic
rs3867498-?
rs2838815-?
rs1455782-?
rs3820928-?
rs310558-?
rs730532-?
rs808225-?
rs4129267-?
rs2906966-?
rs357394-?
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
1 x 10-6 (fev1slope)
3 x 10-6 (meanratio)
4 x 10-6 (ppfvc)
5 x 10-6 (ppfev1)
5 x 10-6 (ppratio)
6 x 10-6 (ppfef)
7 x 10-6 (ppfefrat)
7 x 10-6 (ppfef)
8 x 10-6 (ppfev1)
9 x 10-6 (ppfvc)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Yang
September 19, 2007
BMC Med Genet
Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study
Factor VII 1,000 individuals (Framingham) NR 13q34
7p22.2
1p36.32
3p26.1
MCF2L, AB116074, AK092739, AK123267, AB0023600, F7, CR603372, F10, PROZ
Intergenic
Intergenic
Intergenic
rs561241-?
rs10488360-?
rs966321-?
rs4591494-?
0.12
0.30
0.47
0.19
5 x 10-16
7 x 10-6
8 x 10-6
9 x 10-6
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 " Hemostatic factors and hematological phenotypes 1,000 individuals (Framingham NR 11q11
14q21.3
1q23.2
2p16.2
1p31.1
8q24.13
5q21.3
11q24.1
1p34.3
12q14.2
4p15.33
10p11.21
14q32.2
20p12.3
2p16.2
5q21.1
6q25.1
6q25.1
OR5AP2, OR5AR1, OR9G1, OR9G4
MAMDC1
OR10J1,OR10J5
Intergenic
NEGR1
Intergenic
Intergenic
Intergenic
FLJ11730, BC016328
Intergenic
Intergenic
ANKRD30A
Intergenic
Intergenic
Intergenic
Intergenic
Intergenic
MAP3K7IP2
rs1397048-?
rs7159841-?
rs4133289-?
rs1160297-?
rs10493485-?
rs7844723-?
rs4460176-?
rs565229-?
rs9253-?
rs10506458-?
rs10489087-?
rs1200821-?
rs10484128-?
rs6108011-?
rs2357013-?
rs1829883-?
rs636864-?
rs727979-?
0.4
0.21
0.19
0.43
0.29
0.45
0.29
0.10
0.18
0.13
0.13
0.47
0.15
0.28
0.45
0.41
0.21
0.14
7 x 10-8 (MCH)
2 x 10-7 (Viscosity)
2 x 10-7 (Hgb)
1 x 10-6 (Hgb)
2 x 10-6 (tPA)
2 x 10-6 (Hgb)
3 x 10-6 (PAI-1)
4 x 10-6 (pltcoll)
4 x 10-6 (RBCC)
5 x 10-6 (pltcoll)
5 x 10-6 (RBCC)
6 x 10-6 (MCH)
6 x 10-6 (pltadp)
6 x 10-6 (RBCC)
6 x 10-6 (Hgb)
6 x 10-6 (MCH)
6 x 10-6 (RBCC)
8 x 10-6 (RBCC)
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
NR
Affymetrix
[70,897]
N
11/25/08 Florez
September 10, 2007
Diabetes
A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: replication and integration with other genome-wide datasets
Type 2 diabetes and 6 quantitative traits 1,087 family members 1,465 unrelated individuals; 2,175 cases and 2,412 controls NS NS NS NS NS NS Affymetrix
[66,543]
N
11/25/08 Hanson
September 10, 2007
Diabetes
A search for variants associated with young-onset type 2 diabetes in American Indians in a 100K genotyping array
Type 2 diabetes 300 cases, 334 controls, 121 nondiabetic siblings, 140 diabetic siblings 1,207 cases, 1,627 controls NS NS NS NS NS NS Affymetrix
[80,044]
N
11/25/08 Hayes
September 10, 2007
Diabetes
Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies
Type 2 diabetes 281 cases, 280 controls ~1,979 cases, ~3,092 controls NS NS NS NS NS NS Affymetrix
[88,142]
N
11/25/08 Rampersaud
September 10, 2007
Diabetes
Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish: evidence for replication from diabetes-related quantitative traits and from independent populations
Type 2 diabetes 124 cases, 295 controls 2,142 cases, 2,117 controls NS NS NS NS NS NS Affymetrix
[82,485]
N
11/25/08 van Es
September 07, 2007
Lancet Neurol
ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study
Amyotrophic lateral sclerosis 737 cases, 721 controls 1,030 cases, 1,195 controls 12p11 ITPR2 rs2306677-? 0.07 3 x 10-6 1.58 [1.30-1.91] Illumina
[311,946]
N
11/25/08 Plenge
September 05, 2007
N Engl J Med
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study
Rheumatoid arthritis 1,493 cases, 1,831 controls 1,053 cases, 1,858 controls 6p21.32
9q34
1p13.2
HLA-DRB1
TRAF1-C5
PTPN22
rs660895-?
rs3761847-G
rs2476601-?
0.21
0.41
0.10
1 x 10-108
4 x 10-14
2 x 10-11
3.62 [NR]
1.32 [1.23-1.42]
1.72 [NR]
Illumina
[297,086]
N
11/25/08 Raelson
September 05, 2007
Proc Natl Acad Sci USA
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci
Crohn's disease 382 trios 750 cases, 828 controls, 521 trios 16q12.1
1p31.3
1p31.3
NOD2
IL23R
IL23R
rs5743289-?
17 marker haplotype-1
17 marker haplotype-2
NR
0.23
0.97
6 x 10-17
1 x 10-8
2 x 10-7
NR
1.38 [1.23-1.53]
2.56 [1.75-3.70]
Perlegen
[164,279]
N
11/25/08 Menzel
September 02, 2007
Nat Genet
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
F-cell distribution 179 adults in upper and lower 5% 90 adults 11p15.5
6q23.3
2p15.1
HBB
Intergenic
BCL11A
NR
rs9399137-?
rs1427407-?
0.33
0.23
0.14
2 x 10-38
3 x 10-36
6 x 10-31
10.2 [NR] % of variance explained
15.8 [NR] % of variance explained
13.1 [NR] % of variance explained
Illumina
[308,015]
N
11/25/08 Weedon
September 02, 2007
Nat Genet
A common variant of HMGA2 is associated with adult and childhood height in the general population
Height 4,921 individuals 29,098 individuals (19,064 adults) 12q14.3 HMGA2 rs1042725-C 0.51 6 x 10-16 .4 [NR] cm per copy in adult height Affymetrix
[364,301]
N
11/25/08 Thorleifsson
August 09, 2007
Science
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
Glaucoma (exfoliation) 75 cases, 14,474 controls 254 cases, 198 controls 15q24.1 LOXL1 rs3825942-G 0.85 3 x 10-21 20.1 [10.80-37.41] Illumina
[304,250]
N
11/25/08 Franke
August 08, 2007
PLoS ONE
Systematic association mapping identifies NELL1 as a novel IBD disease gene
Crohn's disease 393 cases, 399 controls 1,248 trios, 2,920 cases, 1,961 controls 16q12.1
5p13.1
11p15.1
CARD15
PTGER4
NELL1
rs2076756-?
rs1992660-?
rs1793004-?
0.27
0.39
0.27
1 x 10-21
4 x 10-7
3 x 10-6
1.71 [1.42-2.05]
1.42 [1.24-1.67]
1.3 [1.12-1.52]
Affymetrix
[92,387]
N
11/25/08 Dunckley
August 01, 2007
N Engl J Med
Whole-genome analysis of sporadic amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis 386 cases, 542 controls 901 cases, 1,025 controls NS NS NS NS NS NS Affymetrix and Illumina
[776,955]
N
11/25/08 Maeda
August 01, 2007
Kidney Int Suppl
Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population
Diabetic nephropathy 94 cases, 94 controls NR 7p14.2 ELMO1 rs741301-? NR 8 x 10-6 2.67 [1.71-4.16] NR
[~80,000]
N
11/25/08 Shifman
July 31, 2007
Mol Psychiatry
A whole genome association study of neuroticism using DNA pooling
Neuroticism 1,038 cases, 1,016 controls 831 cases, 702 controls 5q11.2 PDE4D rs702543-A 0.55 2 x 10-6 1.27 [1.15-1.40] Affymetrix
[452,574] (pooled)
N
11/25/08 Hafler
July 29, 2007
N Engl J Med
Risk alleles for multiple sclerosis identified by a genomewide study
Multiple sclerosis 931 trios, 2,431 controls 609 trios, 2,322 cases, 2,987 controls 6p21.32
10p15.1
5p13.2
16p13
1p22
9q33
HLA-DRA
IL2RA
IL7RA
KIAA0350
RPL5
DBC1
rs3135388-A
rs12722489-C
rs6897932-C
rs6498169-G
rs6604026-C
rs10984447-A
0.23
0.85
0.75
0.37
0.29
0.77
9 x 10-81
3 x 10-8
3 x 10-7
4 x 10-6
8 x 10-6
8 x 10-6
1.99 [1.84-2.15]
1.25 [1.11-1.36]
1.18 [1.11-1.26]
1.14 [1.08-1.21]
1.15 [1.08-1.22]
1.17 [1.09-1.25]
Affymetrix
[334,923]
N
11/25/08 Moffatt
July 26, 2007
Nature
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
Asthma 994 cases, 1,243 controls 2,320 cases, 3,301 controls 17q12 ORMDL3 rs7216389-T 0.52 9 x 10-11 1.45 [1.17-1.81] Illumina
[307,328]
N
11/25/08 Scuteri
July 20, 2007
PLoS Genet
Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits
Obesity-related traits 4,741 individuals 3,205 individuals 16q12.2
16q12.2
16q12.2
FTO
FTO
FTO
rs9930506-A
rs9930506-A
rs9930506-A
0.54
0.54
0.54
3 x 10-8 (hip)
9 x 10-7 (weight)
9 x 10-7 (BMI)
.16 [NR] SD lower (hip)
.12 [NR] SD lower (weight)
.13 [NR] SD lower (BMI)
Affymetrix
[362,129]
N
11/25/08 Fellay
July 19, 2007
Science
A whole-genome association study of major determinants for host control of HIV-1
HIV1 viral setpoint 486 patients 140 patients NS NS NS NS NS NS Illumina
[535,101]
N
11/25/08 Stefansson
July 19, 2007
N Engl J Med
A genetic risk factor for periodic limb movements in sleep
Restless legs syndrome 306 cases, 15,664 controls 311 cases, 1,895 controls 6p21.2 BTBD9 rs3923809-A 0.66 1 x 10-17 1.9 [1.50-2.20] Illumina
[306,937]
N
11/25/08 Samani
July 18, 2007
N Engl J Med
Genomewide association analysis of coronary artery disease
Coronary disease 1,926 cases, 2,938 controls 875 cases, 1,644 controls 9p21.3
1p13.3
6q25.1
10q11.21
15q22.33
2q36.3
1q41
Intergenic
PSRC1
MTHFD1L
CXCL12
SMAD3
pseudogene
MIA3
rs1333049-C
rs599839-A
rs6922269-A
rs501120-T
rs17228212-C
rs2943634-C
rs17465637-C
0.47
0.23
0.25
0.13
0.30
0.65
0.29
3 x 10-19
4 x 10-9
3 x 10-8
9 x 10-8
2 x 10-7
2 x 10-7
1 x 10-6
1.36 [1.27-1.46]
1.29 [1.18-1.40]
1.23 [1.15-1.33]
1.33 [1.20-1.48]
1.21 [1.13-1.30]
1.21 [1.13-1.30]
1.2 [1.12-1.30]
Affymetrix
[377,857]
N
11/25/08 Winkelmann
July 18, 2007
Nat Genet
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
Restless legs syndrome 401 cases, 1,644 controls 1,158 cases, 1,178 controls 2p14
6p21.2
15q23
MEIS1
BTBD9
MAP2K5, LBXCOR1
rs2300478-G
rs9296249-T
rs12593813-G
0.24
0.76
0.67
3 x 10-28
4 x 10-18
1 x 10-15
1.74 [1.57-1.92]
1.67 [1.49-1.89]
1.5 [1.36-1.66]
Affymetrix
[236,758]
N
11/25/08 Buch
July 15, 2007
Nat Genet
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
Gallstones 280 cases, 360 controls 2,000 cases, 1,202 controls 2p21 ABCG8 rs11887534-C 0.10 1 x 10-14 2.2 [1.80-2.60] Affymetrix
[382,492]
N
11/25/08 Hakonarson
July 15, 2007
Nature
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
Type 1 diabetes 467 trios, 561 cases, 1,143 controls 2,350 individuals in 549 families; 390 trios 6p21.32
16p13.13
11p15.5
1p13.2
HLA-E
KIAA0350
INS
PTPN22
rs2647044-A
rs2903692-G
rs1004446-C
rs2476601-A
0.13
0.62
0.65
0.09
1 x 10-16
7 x 10-11
4 x 10-9
1 x 10-7
8.3 [6.97-9.89]
1.54 [1.32-1.79]
1.61 [1.37-1.89]
1.8 [1.44-2.24]
Illumina
[543,071]
N
11/25/08 Tomlinson
July 08, 2007
Nat Genet
A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21
Colorectal cancer 930 cases, 960 controls 7,334 cases, 5,246 controls 8q24.21 Intergenic rs6983267-G 0.49 1 x 10-14 1.27 [1.16-1.39] Illumina
[547,647]
N
11/25/08 Zanke
July 08, 2007
Nat Genet
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
Colorectal cancer 1,257 cases, 1,336 controls 6,223 cases, 6,443 controls 8q24.21 ORF DQ515897 rs10505477-A 0.50 3 x 10-11 1.17 [1.12-1.23] Illumina and Affymetrix
[99,632]
N
11/25/08 Gudbjartsson
July 01, 2007
Nature
Variants conferring risk of atrial fibrillation on chromosome 4q25
Atrial fibrillation/atrial flutter 550 cases, 4,476 controls 3,363 cases, 17,616 controls 4q25
4q25
PITX2,ENPEP
PITX2,ENPEP
rs2200733-T
rs10033464-T
0.11
0.08
3 x 10-41
7 x 10-11
1.72 [1.59-1.86]
1.39 [1.26-1.53]
Illumina
[316,515]
N
11/25/08 Gudmundsson
July 01, 2007
Nat Genet
Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
Prostate cancer 1,501 cases, 11,290 controls 1,992 cases, 3,058 controls 17q12
17q24.3
TCF2
Intergenic
rs4430796-A
rs1859962-G
0.49
0.46
1 x 10-11
3 x 10-10
1.22 [1.15-1.30]
1.2 [1.14-1.27]
Illumina
[310,520]
N
11/25/08 Salonen
June 26, 2007
Am J Hum Genet
Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium
Type 2 diabetes 500 cases, 497 controls 2,573 cases, 2,776 controls 10q25.2
2q12.1
TCF7L2
Intergenic
rs7903146-A
rs6712932-?
NR
NR
5 x 10-8
6 x 10-6
1.71 [1.41-2.08]
1.52 [1.27-1.82]
Illumina
[315,917]
N
11/25/08 van Heel
June 10, 2007
Nat Genet
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
Celiac disease 778 cases, 1,422 controls 991 cases, 1,489 controls 6p21.32
4q27
HLA-DQA1
KIAA1109,TENR,IL2,IL21
rs2187668-A
rs6822844-G
0.14
0.82
1 x 10-19
1 x 10-14
7.04 [6.08-8.15]
1.59 [1.41-1.75]
Illumina
[310,605]
N
11/25/08 Reiman
June 07, 2007
Neuron
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers
Alzheimer's disease (late onset) 446 cases, 290 controls 415 cases, 260 controls 11q14.1 GAB2 rs2373115-G 0.70 1 x 10-10 4.06 [2.81-14.69] Affymetrix
[312,316]
N
11/25/08 WTCCC
June 07, 2007
Nature
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
Bipolar disorder 1,868 cases, 2,938 controls NR 16p12.1
6p21
3q27
14q23.1
20p13
2q37
14q32.33
PALB2,NDUFAB1,DCTN5
NR
NR
NR
NR
NR
NR
rs420259-A
<