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Home>About NHGRI>About the Office of the Director>Office of Population Genomics >A Catalog of Published Genome-Wide Association Studies


A Catalog of Published Genome-Wide Association Studies

Note: This catalog is best viewed with a screen resolution of 1280 x 1024 or higher

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 were excluded from this catalog. Studies were identified through PubMed literature searches, comparisons with an existing database of GWAS literature (HuGE Navigator) and reports from the media.

SNP-trait associations listed here are limited to those with p-values < 9.5 x 10-6 and not previously reported. Note that SNPs replicated in subsequent GWA studies are therefore not included. For most studies, only the five most significant SNPs reaching this significance level are listed. Multipliers of powers of 10 in p-values were rounded to the nearest single digit; odds ratios and allele frequencies were rounded to two decimals. Standard errors were 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. Odds ratios < 1 in the original paper were converted to OR > 1 for the alternate allele. ORs derived from multiple models reported in the original paper were prioritized as follows: 1) additive (per-allele) model 2) heterozygotes relative to homozygotes for the non-risk allele. P-values from 2-degree of freedom models are preferentially reported over those based on 1-degree of freedom models where both were available.

Gene regions corresponding to SNPs were identified from the UCSC Genome Browser. Genes 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.

How to cite this site:
Hindorff LA, Junkins HA, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/26525384. Accessed [date of access].

This table is also available for download in MS-Excel format. To save the file, use an .xls extension.
This document requires the use of either MS-Excel or a free Excel viewer.

Abbreviations used on this page
For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

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As of 11/13/08, this table includes 202 publications and 436 SNPs.
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]
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 15q25.1
6q15
10p15.1
22q13.1
2p23.3
CTSH
BACH2
PRKCQ
C1QTNF6
Intergenic
rs3825932-C
rs11755527-G
rs947474-G
rs229541-T
rs2165738-C
0.32
0.47
0.19
0.43
0.27
3 x 10-15
5 x 10-12
4 x 10-9
2 x 10-8
4 x 10-6
1.16 [1.10-1.22]
1.13 [1.08-1.19]
1.1 [1.03-1.18]
1.04 [0.97-1.12]
1.07 [1.01-1.13]
Affymetrix
[up to 335,565]
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 6p21.33
5p15.33
BAT3MSH5
CLPTM1L
rs3117582-C
rs401681-G
NR
NR
5 x 10-10
8 x 10-9
1.24 [1.16-1.33]
1.15 [1.09-1.19]
Illumina
[223,891]
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]
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 PAX1 rs1160312-A 0.43 1 x 10-14 (males) 1.6 [1.42-1.80] (males) Affymetrix
[370,102]
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
Cutaneous basal cell carcinoma 930 cases, 33,117 controls 1,216 cases, 2,844 controls 1p36.13
1q42.13
PAD14, PAD16,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]
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]
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]
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 4q22.1
6p22.2
ABCG2
SLC17A3
rs2231142-?
rs1165205-?
0.11
0.47
3 x 10-60 (whites)
4 x 10-29 (whites)
.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]
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]
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 22q13.33 CPT1B rs727153-C 0.17 3 x 10-6 1.63 [1.37-1.95] Illumina
[561,494] (pooled)
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]
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]
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 NR NR NR NR NS NR Affymetrix
[up to 722,376]
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]
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 20q13.12
9p13.3
12q13.3
1p36.32
7q21.2
CD40
CCL21
KIF5A-PIP4K2C
MMEL1-TNFRSF14
CDK6
rs4810485-G
rs2812378-G
rs1678542-C
rs3890745-T
rs42041-G
0.25
0.34
0.37
0.33
0.24
8 x 10-9
3 x 10-8
9 x 10-8
1 x 10-7
4 x 10-6
1.15 [NR]
1.12 [NR]
1.12 [NR]
1.12 [NR]
1.11 [NR]
Illumina
[818,728] Affymetrix
[~340,000] (imputed)
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 NR NR NR NR NS NR Affymetrix
[169,154]
" Hearing impairment 1,081 individuals NR NR NR NR NR NS NR Affymetrix
[169,154]
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]
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 19p13.3 FUT2 rs492602-G 0.49 5 x 10-17 .09 [0.07-0.11] pg/ml decrease Illumina
[528,134]
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 13q33.1
2q31.1
13q14.11
3p24.3
20p12.3
NR
NR
NR
NR
NR
rs4771450-?
rs4668338-?
rs17065323-?
rs6442522-?
rs6085920-?
NR
NR
NR
NR
NR
2 x 10-6
3 x 10-6
4 x 10-6
5 x 10-6
6 x 10-6
.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
Affymetrix
[361,034]
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]
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
IRF4
GRAMD1B
Intergenic
ACOXL,BCL2L11
SP140, SP110
rs872071-G
rs735665-A
rs7176508-A
rs17483466-G
rs13397985-G
0.54
0.21
0.37
0.20
0.19
2 x 10-20
4 x 10-12
5 x 10-12
2 x 10-10
6 x 10-10
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]
Illumina
[345,665]
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
TNFRSF6B
PSMG1
rs2315008-G
rs2836878-?
0.69
0.72
9 x 10-15
4 x 10-12
1.36 [1.05-1.76]
1.41 [1.08-1.84]
Illumina
[NR]
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 NR NR NR NR NS NR Illumina
[~318,000] (pooled)
Weidinger
August 22, 2008
PLoS Genetics
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]
Ferreira
August 17, 2008
Nat Genet
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
Bipolar disorder 1,098 cases, 1,267 controls 4,387 cases, 6,209 controls 10q21.2
15q14
2q11.2
9q33.3
11q14.1
ANK3
C15orf53, RASGRP1
Intergenic
NR
NR
rs10994336-T
rs12899449-?
rs2314398-?
rs4130590-?
rs12290811-A
0.05
0.72
0.69
0.56
0.15
9 x 10-9
4 x 10-7
3 x 10-6
3 x 10-6
4 x 10-6
1.45 [NR]
1.2 [NR]
1.17 [NR]
1.16 [NR]
1.2 [NR]
Affymetrix
[1,769,948] imputed
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]
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 NR NR NR NR NS NR Affymetrix
[375,771]
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 6p23.3
10q11.22
17p12
4q28.3
2p16.3
TNFAIP3
c10orf64
Intergenic
Intergenic
Intergenic
rs5029939-?
rs11101442-?
rs12949531-?
rs2313132-?
rs17039212-?
0.03
0.32
0.22
0.12
0.10
3 x 10-12
3 x 10-6
8 x 10-6
8 x 10-6
9 x 10-6
2.28 [NR]
NR
NR
NR
NR
Affymetrix
[313,238]
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 18q23 SALL3 rs2002842-A 0.49 6 x 10-6 1.61 [NR] Illumina
[299,918]
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]
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]
The SEARCH Collaborative Group
July 23, 2008
N Engl J Med
SLCO1B1 Variants and Statin-Induced Myopathy--A Genomewide Study
Myopathy 85 cases, 90 controls 19,856 individuals NR NR NR NR NS NR Illumina
[316,184]
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]
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 6q26
9p21.2
7q21.3
4p15.1
1p22.3
QKI
IFNK
PON1
CENTD1
LMO4
rs10945919-G
rs7046653-A
rs854555-A
rs437943-G
rs983332-A
0.32
0.26
0.34
0.33
0.21
3 x 10-7
5 x 10-7
2 x 10-6
4 x 10-6
5 x 10-6
NR
NR
NR
NR
NR
Illumina
[283,348]
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
ICAM1
ABO
ICAM1
rs1799969-G
rs507666-G
rs5498-A
0.12
0.20
0.43
4 x 10-47
5 x 10-29
5 x 10-25
28.19 [NR] umol/L decrease
17.73 [NR] umol/L decrease
13.22 [NR] umol/L increase
Illumina
[336,108]
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]
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]
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]
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 13q14.11
5q33.3
6q27
17q21.2
6q21
Unknown
IL12B
CCR6
STAT3
Unknown
rs3764147-G
rs10045431-C
rs2301436-T
rs744166-A
rs7746082-C
0.22
0.71
0.46
0.57
0.29
2 x 10-13
4 x 10-13
1 x 10-12
7 x 10-12
2 x 10-10
1.25 [NR]
1.11 [NR]
1.21 [NR]
1.18 [NR]
1.17 [NR]
Affymetrix and Illumina
[635,547] (imputed)
Behrens
June 24, 2008
Arthritis Rheum
Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis
Juvenile idiopathic arthritis 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]
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]
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 12p13.33 CACNA1C rs216013-? NR 9 x 10-7 NR Illumina
[538,629]
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]
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 NR NR NR NR NS NR Affymetrix
[~500,000] (pooled)
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 NR NR NR NR NS NR Affymetrix
[334,563]
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
NRG3
NUBPL
SLCO3A1
BRUNOL4
CERKL
rs4933824-T
rs7142881-A
rs3924426-T
rs4799915-T
rs993648-T
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
NR
NR
NR
NR
NR
Affymetrix
[339,272]
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)
Sulem
May 18, 2008
Nat Genet
Two newly identified genetic determinants of pigmentation in Europeans
Blond vs. brown hair 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]
" 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]
" 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]
" 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]
" Red vs. non-red hair 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]
" 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]
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
5p13.3
6p25.3
IRF4
HERC2
MATP
EXOC2
rs12203592-T
rs12913832-A
rs28777-C
rs6918152-A
NR
NR
NR
NR
7 x 10-127
4 x 10-103
1 x 10-17
6 x 10-8
.35 [0.33-0.37] decrease in hair color score
.44 [0.40-0.48] decrease in hair color score
.46 [0.36-0.56] decrease in hair color score
.11 [0.07-0.15] increase in hair color score
Illumina
[528,173]
" Black vs. red hair color 2,287 women up to 8,465 individuals 15q13.1
6p25.3
5p13.3
6p25.3
HERC2
IRF4
MATP
EXOC2
rs12913832-A
rs12203592-T
rs28777-C
rs6918152-A
NR
NR
NR
NR
1 x 10-77
9 x 10-28
9 x 10-14
5 x 10-7
.44 [0.40-0.48] decrease in hair color score
.31 [0.25-0.36] decrease in hair color score
.46 [0.34-0.58] decrease in hair color score
.11 [0.07-0.15] increase in hair color score
Illumina
[528,173]
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]
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
17q12
11q23.1
6q26
22q11.23
IL6R
CCL4L2
IL18
LPA
GGT1
rs4129267-C
rs4796217-T
rs2250417-A
rs7770628-T
rs5751901-T
0.37
0.34
0.44
0.49
0.39
2 x 10-57 (IL-6sR)
4 x 10-21 (MIPb)
7 x 10-13 (IL18)
4 x 10-10 (LPA)
2 x 10-7 (GGT1)
NR
NR
NR
NR
NR
Illumina
[496,032]
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]
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]
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 18q21.32 MC4R rs12970134-A 0.36 2 x 10-9 (waist circumference) .88 [0.59-1.17] cm increase Illumina
[308,067]
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 MC4R rs17782313-C 0.24 3 x 10-15 .05 [0.04-0.06] unit increase in log(BMI) Affymetrix
[344,883]
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 NR NR NR NR NS NR Affymetrix
[469,218]
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]
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
ZBTB40
OPG
ESR1
RANKL
rs7524102-A
rs6993813-C
rs1038304-G
rs9594738-T
0.82
0.50
0.47
0.56
5 x 10-16
3 x 10-11
5 x 10-9
2 x 10-8
.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
Illumina
[301,019]
" Bone mineral density (spine) 5,861 individuals 7,925 individuals 13q14.11
8q24.12
6p25.1
1p36.12
6p21.32
RANKL
OPG
ESR1
ZBTB40
MHC, C6orf10
rs9594759-T
rs6469804-A
rs4870044-T
rs7524102-A
rs3130340-T
0.62
0.51
0.28
0.82
0.79
2 x 10-21
7 x 10-15
2 x 10-11
9 x 10-9
1 x 10-7
.17 [0.14-0.21] SD decrease
.12 [0.09-0.15] SD decrease
.11 [0.08-0.14] SD decrease
.11 [0.07-0.15] SD decrease
.1 [0.06-0.13] SD decrease
Illumina
[301,019]
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]
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 HNF1A rs1169310-A 0.38 2 x 10-8 .13 [0.08-0.17] mg/l decrease in log(CRP) level Illumina
[317,000]
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 1p31.3
12q24.31
2p23.3
12q23.2
1q21.3
LEPR
HNF1A
GCKR
Unknown
IL6R
rs1892534-A
rs7310409-A
rs780094-A
rs10778213-G
rs8192284-?
NR
NR
NR
NR
NR
7 x 10-21
7 x 10-17
7 x 10-15
1 x 10-10
2 x 10-8
.17 [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]
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]
Gudbjartsson
April 06, 2008
Nat Genet
Many sequence variants affecting diversity of adult human height
Height 30,968 individuals 8,541 individuals 3q23
7p22.2
6q24.1
4q31.22
6p24.3
ZBTB38
GNA12
GPR126
HHIP
BMP6
rs6763931-A
rs798544-G
rs3748069-A
rs1812175-C
rs12198986-A
0.45
0.72
0.74
0.86
0.50
1 x 10-27
7 x 10-15