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 |