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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

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 09/15/08, this table includes 181 publications and 748 SNPs.
First Author/Date/ Journal/Study Disease/Trait Initial
Sample Size		 Replication Sample Size Region Gene Strongest SNP-Risk Allele Risk Allele Frequency in Controls P-value OR per copy or B-coefficient for heterozygote and [95% CI] Platform
[SNPs passing QC]
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 0.09 [0.07-0.11] pg/ml decrease Illumina
[528,134]
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]		 Affymetrix
[NR]
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		 19.20 % [NR] decrease
13.90 % [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
NR
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]
1.20 [NR]
1.17 [NR]
1.16 [NR]
1.20 [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 NA NA NA NA NS NA 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 leg syndrome 628 cases, 1,644 controls 1,835 cases, 3,111 controls 9p24.1
9p23		 PTPRD
PTPRD		 rs1975197-T
rs4626664-A		 0.16
0.12		 6 x 10-9
8 x 10-7		 1.31 [1.20-1.44]
1.44 [1.31-1.59]		 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 NA NA NA NA NS NA 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 		Sarcoidosis and Crohn disease 382 CD cases, 398 SA cases, 394 controls 660 CD cases, 657 SA cases, 1,091 controls 10p12.2 C10ORF67 rs1398024-? NR 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		 QKI
IFNK		 rs10945919-G
rs7046653-A		 0.32
0.26		 3 x 10-7
5 x 10-7		 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 2,325 cases 1,809 controls 1,339 affected trios 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 0.3 4 x 10-23 0.06 [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 blood 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 NA NA NA NA NS NA 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 NA NA NA NA NS NA 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 1.40 [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
5p13.3
6p25.3
15q13.1		 IRF4
MATP
EXOC2
HERC2		 rs12203592-T
rs28777-C
rs6918152-A
rs12913832-A		 NR
NR
NR
NR		 7 x 10-127
1 x 10-17
6 x 10-8
4 x 10-103		 0.35 [0.33-0.37] decrease in hair color score
0.46 [0.36-0.56] decrease in hair color score
0.11 [0.07-0.15] increase in hair color score
0.44 [0.40-0.48] decrease in hair color score		 Illumina
[528,173]
" Black vs. red hair color 2,287 women 870 women 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		 0.44 [0.40-0.48] decrease in hair color score
0.31 [0.25-0.36] decrease in hair color score
0.46 [0.34-0.58] decrease in hair color score
0.11 [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 0.5 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
4 x 10-21
7 x 10-13
4 x 10-10
2 x 10-7		 NR
NR
NR
NR
NR		 Illumina
[496,032]
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 0.88 [0.59-1.17] cm increase in waist circumference 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 0.05 (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 NA NA NA NA NS NA 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		 0.13 [NR] SD decrease
0.09 [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		 0.15 (0.11-0.19) SD decrease
0.09 (0.07-0.12) SD decrease
0.08 (0.06-0.11) SD decrease
0.10 (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		 0.17 (0.14-0.21) SD decrease
0.12 (0.09-0.15) SD decrease
0.11 (0.08-0.14) SD decrease
0.11 (0.07-0.15) SD decrease
0.10 (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 0.13 (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 1q31.3
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		 0.17 [NR] mg/dl decrease
0.15 [NR] mg/dl decrease
0.14 [NR] mg/dl increase
0.12 [NR] mg/dl decrease
0.10 [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 0.30 [NR] ng/ml decrease in serum YKL-40 levels   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
5 x 10-14
1 x 10-11
2 x 10-11		 7.40 (0.7) % SD taller
5.90 (0.8) % SD taller
6.50 (0.9) % SD taller
8.30 (1.2) % SD taller
6.80 (1.0) % SD taller		 Illumina and Affymetrix
[up to 304,226]
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
6q24.3
6q22.1
4q31.22
14q32.12		 ZBTB38
GPR126
HISTH1D
HHIP
TRIP11,ATXN3		 rs724016-G
rs4896582-A
rs10946808-G
rs1492820-G
rs8007661-T		 0.48
0.27
0.28
0.48
0.30		 8 x 10-22
2 x 10-18
4 x 10-17
1 x 10-11
6 x 10-10		 0.37 (0.04) cm taller
0.38 (0.05) cm shorter
0.36 (0.05) cm shorter
0.29 (0.04) cm shorter
0.42 (0.06) cm shorter		 Affymetrix and Illumina
[2,260,683] (imputed)
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		 ZBTB38
CDK6
HMGA2
GDF5
LCORL		 rs6440003-A
rs2282978-C
rs1042725-C
rs6060373-G
rs16896068-A		 0.44
0.33
0.49
0.38
0.16		 2 x 10-24
8 x 10-23
3 x 10-18
2 x 10-17
2 x 10-13		 0.07 [0.04-0.09] SD taller - among males
0.09 [0.06-0.12] SD taller - among males
0.05 [0.03-0.08] SD taller - among males
0.08 [0.05-0.11] SD shorter - among males
0.07 [0.03-0.11] SD shorter - among males		 Affymetrix
[402,951]
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 13q13 COG6 rs7993214-? 0.65 2 x 10-6 1.41 [1.22-1.61] Illumina
[305,983]
Amos
April 03, 2008
Nat Genet
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at15q251 		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		 1.30 [1.15-1.47]
1.22 [1.10-1.35]
1.16 [1.05-1.28]		 Illumina
[317,498]
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 1.30 [1.23-1.37] Illumina
[310,023]
Thorgeirsson
April 03, 2008
Nature
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease 		Nicotine dependence, lung cancer and peripheral arterial disease ND: 10,995 smokers ND: 4,848 smokers. LC:1,024 cases, 32,244 controls PAD:2,738 cases, 29,964 controls 15q25.1
15q25.1
15q25.1		 CHRNA3,CHRNA5,CHRNB4
CHRNA3,CHRNA5,CHRNB4
CHRNA3,CHRNA5,CHRNB4		 rs1051730-T
rs1051730-T
rs1051730-T		 0.35
0.35
0.35		 6 x 10-20 (ND)
2 x 10-8 (LC)
1 x 10-7 (PAD)		 0.10 [0.08-0.12] increase in cigarettes per day
1.31 [1.19-1.44](LC)
1.19 [1.12-1.27](PAD)		 Illumina
[306,207]
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
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		 1.20 [1.16-1.24]
1.19 [1.15-1.23]
1.11 [1.08-1.15]		 Illumina
[541,628]
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		 EIF3H
Intergenic		 rs16892766-A
rs10795668-A		 0.07
0.67		 3 x 10-18
3 x 10-13		 1.27 [1.20-1.34]
1.12 [1.10-1.16]		 Affymetrix
[547,647]
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 7p15.1
10p13
12q21.1
2p21
3p14.1		 JAZF1
CDC123,CAMK1D
TSPAN8,LGR5
THADA
ADAMTS9		 rs864745-T
rs12779790-G
rs7961581-C
rs7578597-T
rs4607103-C		 0.50
0.18
0.27
0.90
0.76		 5 x 10-14
1 x 10-10
1 x 10-9
1 x 10-9
1 x 10-8		 1.10 [1.07-1.13]
1.11 [1.07-1.14]
1.09 [1.06-1.12]
1.15 [1.10-1.20]
1.09 [1.06-1.12]		 Affymetrix and Illumina
[2,202,892] (imputed)
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 NA NA NA NA NS NA Affymetrix
[117,062] (pooled)
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 20q13.13 SPATA2 rs495337-? NR 1 x 10-8 1.25 [1.12-1.39] Illumina
[~408,000] (pooled)
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]
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 Affymetrix
[~550,000] (pooled)
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 0.4 3 x 10-70 0.35 [NR] mg/dl decrease in uric acid Affymetrix
[335,152]
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 0.88 [NR] uM decrease in uric acid [females only] Illumina
[308,140]
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 (BMI > 40 kg/m²), 2,916 lean individuals (BMI < 25 kg/m²) NA NA NA NA NS NA Affymetrix
[379,319]
Sklar
March 04, 2008
Mol Psychiatry
Whole-genome association study of bipolar disorder 		Bipolar disorder 1 1,461 cases, 2,008 controls 409 trios, 365 cases, 351 controls NA NA NA NA NS NA Affymetrix
[372,193]
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 1q31.2
3q25.33
2q12.1
3q28
6q25.3		 RGS1
IL12A, SCHIP1
IL1RL1,IL18R1,IL18RAP, SLC9A4
LPP
TAGAP		 rs2816316-C
rs17810546-G
rs13015714-C
rs1464510-A
rs1738074-A		 NR
NR
NR
NR
NR		 3 x 10-11
1 x 10-9
4 x 10-9
5 x 10-9
7 x 10-8		 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]		 Illumina
[310,605]
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 NA NA NA NA NS NA Affymetrix
[up to 466,883] (pooled)
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]
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 NA NA NA NA NS NA Affymetrix
[510,552]
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
11q13.2
6q25.3
7q21.3		 MSMB
KLK3
Intergenic
SLC22A3
LMTK2		 rs10993994-T
rs2735839-G
rs7931342-G
rs9364554-T
rs6465657-C		 0.40
0.85
0.51
0.29
0.46		 9 x 10-29
2 x 10-18
2 x 10-12
6 x 10-10
1 x 10-9		 1.25 [1.17-1.34]
1.20 [1.10-1.33]
1.19 [1.11-1.27]
1.17 [1.08-1.26]
1.12 [1.05-1.20]		 Illumina
[541,129]
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]
Thomas
February 10, 2008
Nat Genet
Multiple loci identified in a genome-wide association study of prostate cancer 		Prostate cancer (aggressive) 1,172 cases, 1,157 controls 3,941 cases, 3,964 controls 10q11.23
11q13.2
10q26.13
7p15.2		 MSMB
Intergenic
CTBP2
JAZF1		 rs10993994-T
rs10896449-G
rs4962416-C
rs10486567-G		 0.40
0.52
0.27
0.77		 7 x 10-13
2 x 10-9
2 x 10-7
2 x 10-6		 1.16 [1.04-1.29]
1.10 [0.98-1.23]
1.17 [1.05-1.30]
1.12 [1.02-1.25]		 Illumina
[527,869]
Sandhu
February 09, 2008
Lancet
LDL-cholesterol concentrations: a genome-wide association study 		LDL cholesterol 11,685 individuals from 5 genome-wide scans 5,036 individuals 1p13.3 CELSR2 rs599839-G 0.19 1 x 10-33 0.15 [.13-.19] SD decrease in LDL Affymetrix and Illumina
[up to 461,986]
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		 0.48 [NR] SD decrease in HbF
0.58 [NR] SD decrease in HbF		 Affymetrix
[362,129]
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 rs1670533-C 0.23 (men and women combined) 2 x 10-12 88.20 [63.7-112.7] cM increase Illumina
[309,241]
" Recombination rate (males) 1,887 men 1,248 men 4p16.3 RNF212 rs3796619-T 0.33 (men and women combined) 3 x 10-24 70.70 [84.3-57.1] cM decrease Illumina
[309,241]
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 from 3 separate genome-wide scans 8,273 individuals 15q13.1 HERC2 rs916977-? NR 1 x 10-43 NR Affymetrix and Illumina
[up to ~500,000] (pooled)
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) NA NA NA NA NS NA Affymetrix
[449,127]
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 in women 720 cases, 2,337 controls 1,846 cases, 1,825 controls 16p11.2
11p15.5
3p14.3
1q25.1		 ITGAM
KIAA1542
PXK
Intergenic		 rs9888739-T
rs4963128-?
rs6445975-C
rs10798269-?		 0.13
0.34
0.28
0.64		 2 x 10-23
3 x 10-10
7 x 10-9
1 x 10-7		 1.62 [1.47-1.78]
1.28 [1.18-1.37]
1.25 [1.16-1.35]
1.22 [1.14-1.32]		 Illumina
[317,501]
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 16p11.2
8p23.1		 ITGAM, ITGAX
C8orf13, BLK		 rs11574637-C
rs13277113-A		 0.19
0.23		 3 x 10-11
1 x 10-10		 1.33 [1.22-1.46]
1.39 [1.28-1.51]		 Illumina
[502,033]
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]
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 563 cases, 1,146 controls, 483 trios 549 families, 1092 individuals from 364 trios 12q13.2 RAB5B, SUOX, IKZF4, ERBB3, CDK2 rs1701704-C 0.35 9 x 10-10 1.25 [1.12-1.40] (3-SNP haplotype) Illumina
[543,071]
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 NA NA NA NA NS NA Affymetrix
[~100,000] (pooled)
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 1q42.13 GALNT2 rs4846914-G 0.40 2 x 10-13 0.07 [0.05-0.09] SD higher Affymetrix
[389,878]
" LDL cholesterol 2,758 individuals 18,544 individuals 1p13.3
19p13.11		 CELSR2,PSRC1,SORT1
CILP2, PBX4		 rs646776-C
rs16996148-G		 0.24
0.90		 3 x 10-29
3 x 10-8		 0.16 [0.14-0.18] SD lower
0.10 [0.06-0.14] SD lower		 Affymetrix
[389,878]
" Triglycerides 2,758 individuals 18,544 individuals 7q11.23
8q24.13
1q42.13
19p13.11
1p31.3		 BCL7B, TBL2, MLXIPL
TRIB1
GALNT2
CILP2, PBX4
ANGPTL3, DOCK7, ATG4C		 rs17145738-T
rs17321515-A
rs4846914-G
rs16996148-G
rs12130333-C		 0.13
0.49
0.40
0.90
0.78		 7 x 10-22
4 x 10-17
7 x 10-15
4 x 10-9
2 x 10-8		 0.14 [0.25-0.53] SD lower
0.08 [0.06-0.10] SD lower
0.08 [0.06-0.10] SD higher
0.10 [0.06-0.14] SD lower
0.11 [0.07-0.15] SD lower		 Affymetrix
[389,878]
Kooner
January 13, 2008
Nat Genet
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides 		Triglycerides 2,011 individuals 10,536 individuals 7q11.23 MLXIPL rs3812316-C 0.95 1 x 10-10 10.50 [5.3-17.7]% higher Perlegen
[up to 216,774]
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		 0.44 [NR] cm taller
0.86 [NR] cm taller
0.66 [NR] cm taller
0.61 [NR] cm taller
0.90 [NR] cm taller		 Illumina and Affymetrix
[~2,261,000] (imputed)
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 1q42.13
12q24.11		 GALNT2
MVK,MMAB		 rs2144300-C
rs2338104-G		 NR
0.45		 3 x 10-14
3 x 10-8		 1.11 [NR] mg/dl higher
0.48 [NR] mg/dl higher		 Illumina and Affymetrix
[~2,261,000] (imputed)
" LDL cholesterol 8,589 individuals 7,440-10,783 individuals 1p13.3
19p13.11
6p21.32		 CELSR2,PSRC1,SORT1
NCAN,CILP2
B3GALT4		 rs599839-A
rs16996148-G
rs2254287-G		 0.77
0.89
0.38		 6 x 10-33
3 x 10-9
5 x 10-8		 5.48 [NR] mg/dl higher
3.32 [NR] mg/dl higher
1.91 [NR] mg/dl higher		 Illumina and Affymetrix
[~2,261,000] (imputed)
" Triglycerides 8,684 individuals 5,312-9,707 individuals 2p23.3
8q24.13
7q11.23
1p31.3
19p13.3		 GCKR
TRIB1
MLXIPL
ANGPTL3
NCAN,CILP2		 rs780094-T
rs17321515-A
rs17145738-C
rs1748195-C
rs16996148-G		 0.39
0.56
0.84
0.70
0.92		 6 x 10-32
7 x 10-13
2 x 10-12
2 x 10-10
3 x 10-9		 8.59 [NR] mg/dl higher
6.42 [NR] mg/dl higher
8.21 [NR] mg/dl higher
7.12 [NR] mg/dl higher
6.10 [NR] mg/dl higher		 Illumina and Affymetrix
[~2,261,000]] (imputed)
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) 1p13.3 CELSR2,PSRC1 rs599839-G 0.24 1 x 10-7 0.95 [0.93-0.97] mMol/L higher Affymetrix
[400,496]
" Serum urate 1,955 hypertensive individuals 2,033 individuals in 519 families; 1,461 twins (1/pair selected randomly) 4p16.1 SLC2A9 rs7442295-A 0.79 2 X 10-15 0.02 [0.02-0.03] mMol/L higher Affymetrix
[400,496]
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 		Early onset extreme obesity 487 young cases, 442 controls 2,269 individuals in 644 families NA NA NA NA NS NA Affymetrix
[440,794]
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 NA NA NA NA NS NA Illumina & Affymetrix
[60,275]
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 DPP6 rs10260404-C 0.35 5 x 10-8 1.30 [1.18-1.43] Illumina
[311,946]
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]
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 in women 50 cases, 50 controls 151 Japanese cases, 160 Japanese controls 14q21.1 NR rs10498345-T 0.3 9 x 10-7 2.33 [1.64-3.23] Affymetrix
[97,552]
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 NA NA NA NA NS NA Affymetrix
[469,438]
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 0.32 [NR] mg/dl higher Affymetrix
[362,129]
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 TNFAIP3, OLIG3 rs10499194-C 0.71 1 x 10-9 1.33 [1.15-1.52] Affymetrix
[79,853]
Webster
November 01, 2007
Neurodegener Dis
Sorl1 as an Alzheimer's disease predisposition gene? 		Alzheimer's disease 664 cases, 422 controls NR NA NA NA NA NS NA Affymetrix
[~502,627]
Sulem
October 21, 2007
Nat Genet
Genetic determinants of hair, eye and skin pigmentation in Europeans 		Blond vs. brown hair 2,986 individuals 3,932 individuals 14q32.12
12q21.33		 SLC24A4
KITLG		 rs4904868-C+rs2402130-A
rs12821256-C		 0.60
0.15		 9 x 10-24
2 x 10-14		 2.56 [2.12-3.09]
2.32 [1.86-2.92]		 Illumina
[317,511]
" Blue vs. green eyes 2,986 individuals 3,932 individuals 14q32.12 SLC24A4 rs4904868-C+rs2402130-A 0.60 2 x 10-18 2.06 [1.76-2.42] Illumina
[317,511]
" Freckles 2,986 individuals 3,932 individuals 6p25.3 SEC5L1,IRF4 rs1540771-A 0.50 4 x 10-18 1.40 [1.26-1.57] Illumina
[317,511]
Stokowski
October 15, 2007
Am J Hum Genet
A genomewide association study of skin pigmentation in a South Asian population 		Skin pigmentation by reflectance spectroscopy 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		 0.30
0.97
0.90		 1 x 10-50
3 x 10-11
4 x 10-10		 12.50 [8.33-20.0]
4.86 [2.88-8.21]
4.36 [2.64-7.20]		 Perlegen
[1,502,205] (pooled)
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]
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 NA NA NA NA NS NA Affymetrix
[241,701]
Benjamin
September 19, 2007
BMC Med Genet
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project 		Select biomarker traits 1,012 individuals (Framingham) NR 1q23.2
1q23.2
1q23.2
1p31.1
19q12		 FCER1A,OR10J3
OR10J1
CRP
Intergenic
ZNF536		 rs2494250-?
rs4128725-?
rs2794520-?
rs7552393-?
rs746961-?		 NR
NR
NR
NR
NR		 1 x 10-14 (MCP1)
4 x 10-12 (MCP1)
3 x 10-8 (CRP average 2,6
5 x 10-7 (TNFA)
8 x 10-7 (CRP6)		 NR
NR
NR
NR
NR		 Affymetrix
[70,897]
Fox
September 19, 2007
BMC Med Genet
Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project 		BMI 1,341 individuals (Framingham) NR 7q32.3
7q23.3
13q21.32		 Intergenic
Intergenic
Intergenic		 rs1106683-?
rs1106684-?
rs1333026-?		 NR
NR
NR		 1 x 10-7 (BMI)
2 x 10-6 (BMI)
8 x 10-6 (BMI)		 NR
NR
NR		 Affymetrix
[70,897]
" Waist circumference traits 1,341 individuals (Framingham) NR 8q21.1
3q13.31		 GDAP1
Intergenic		 rs4471028-?
rs1875517-?		 NR
NR		 2 x 10-7 (WC)
2 x 10-6 (WC)		 NR
NR		 Affymetrix
[70,897]
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]
" 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]
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]
" 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]
" Urinary albumin excretion 810-1,010 individuals depending on measure (Framingham NR 11q23.2 FAM55B rs1712790-? NR 2 x 10-6 NR Affymetrix
[70,897]
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 NA NA NA NA NS NA Affymetrix
[70,897]
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 Intergenic rs9317284-? NR 2x10-7 (FNBMDm) NR Affymetrix
[70,897]
" Hip geometry 1,141 individuals (Framingham) NR 12q21.31
5p14.1
8p12
5q14.3		 Intergenic
Intergenic
NRG1
GPR98		 rs10506821-?
rs2548003-?
rs10503887-?
rs10514345-?		 NR
NR
NR
NR		 2 x 10-7 (ShaftW1f)
2 x 10-7 (NeckZ1rf)
2 x 10-7 (ShaftZ1R)
2 x 10-7 (NeckZ1)		 NR
NR
NR
NR		 Affymetrix
[70,897]
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
10q25.3
11q22.1		 Intergenic
KIAA1598
CNTN5		 rs958546-?
rs4776472-?
rs10501920-?		 NR
NR
NR		 5x10-6
8x10-6
9x10-6		 NR
NR
NR		 Affymetrix
[70,897]
" 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]
" 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]
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 1p31.3
14q24.3
8q13.3		 Intergenic
Intergenic
Intergenic		 rs10493340-?
rs935334-?
rs1963982-?		 NR
NR
NR		 2x10-6 (SBP)
3x10-6 (DBP)
3x10-6 (DBP)		 NR
NR
NR		 Affymetrix
[70,897]
" Tonometry 644-1,327 individuals, depending on measure (Framingham NR 20q13.13
5q14.3		 PREX1
MEF2C		 rs6063312-?
rs770189-?		 NR
NR		 2 x 10-6 (RW)
3 x 10-6 (CB-PWV)		 NR
NR		 Affymetrix
[70,897]
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		 Intergenic
Intergenic
Intergenic		 rs10496265-?
rs1463605-?
rs1528753-?		 NR
NR
NR		 1 x 10-8 (age at natural menopause)
7 x 10-8 (biologic age)
8 x 10-8 (age at death)		 NR
NR
NR		 Affymetrix
[70,897]
" Morbidity-free survival 1,345 individuals (Framingham) NR 1q24.2
5p15.32		 DPT
Intergenic		 rs1412337-?
rs32566-?		 NR
NR		 2 x 10-9
2 x 10-9		 NR
NR		 Affymetrix
[70,897]
Meigs
September 19, 2007
BMC Med Genet
Genome-wide association with diabetes-related traits in the Framingham Heart Study 		Diabetes related insulin traits 1,087 individuals (Framingham) NR 14q12
14q12		 Intergenic
Intergenic		 rs2877832-?
rs2877832-?		 NR
NR		 2 x 10-6 (FI)
3 x 10-6 (HOMA-IR)		 NR
NR		 Affymetrix
[70,897]
" Fasting plasma blood glucose 1,087 individuals (Framingham) NR 8p11.21
3p24.1		 ZMAT4
Intergenic		 rs2722425-?
rs10510634-?		 NR
NR		 2 x 10-8 (tFPG)
5 x 10-6 (tFPG)		 NR
NR		 Affymetrix
[70,897]
" Incident diabetes 1,087 individuals (Framingham) NR 2q32.3 TMEFF2 rs10497721-? NR 7 x 10-7 NR Affymetrix
[70,897]
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		 COLIA1
Intergenic
Intergenic
Intergenic
ABCC4		 rs2075555-?
rs6556756-?
rs1154865-?
rs1978503-?
rs1926657-?		 NR
NR
NR
NR
NR		 8 x 10-8
5 x 10-7
7 x 10-7
9.7 x 10-7
2 x 10-6		 NR
NR
NR
NR
NR		 Affymetrix
[70,897]
" 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]
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]
" 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]
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		 Intergenic
NUMB		 rs2390582-?
rs10483853-?		 NR
NR		 1 x 10-6
6 x 10-6		 NR
NR		 Affymetrix
[70,897]
" Other subclinical atherosclerosis traits 673-984 individuals, depending on measure (Framingham NR 2q33.2
10q11.22
5p15.2		 ABI2
LRRC18
DNAH5		 rs1376877-?
rs3849150-?
rs2896103-?		 NR
NR
NR		 4 x 10-7 (ICA IMT)
2 x 10-6 (AAC)
5 x 10-6 (ABI)		 NR
NR
NR		 Affymetrix
[70,897]
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
14q24.3
21q21.3
4q13.2		 Intergenic
Intergenic
Intergenic
Intergenic		 rs2179965-?
rs235904-?
rs2832077-?
rs1155865-?		 NR
NR
NR
NR		 1 x 10-6 (F3)
2 x 10-6 (F2)
2 x 10-6 (F3)
2 x 10-6 (Nam)		 NR
NR
NR
NR		 Affymetrix
[70,897]
" Volumetric brain MRI 705 individuals (Framingham) NR 20q13.33 CDH4 rs1970546-? NR 4 x 10-8 (ATCBV) NR Affymetrix
[70,897]
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		 SLIT2
SPACA1		 rs1379659-?
rs366676-?		 NR
NR		 1 x 10-7 (LVD)
2 x 10-6 (LVFS)		 NR
NR		 Affymetrix
[70,897]
" Endothelial function traits 1,238 individuals (Framingham) NR 10q24.33 OBFC1 rs3814219-? NR 9 x 107 (BABF) NR Affymetrix
[70,897]
" Exercise treadmill test traits 1,238 individuals (Framingham) NR 4q25
1q43		 NOLA1
RYR2		 rs6847149-?
rs2819770-?		 NR
NR		 3 x 10-6 (S2EHR)
4 x 10-6 (S2EHR)		 NR
NR		 Affymetrix
[70,897]
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]
" Other pulmonary function traits 1,097-1,222 individuals, depending on measure (Framingham) NR 15q11.2
21q22.3
15q26.1		 SNRPN
ADARB1
FLJ32831		 rs3867498-?
rs2838815-?
rs1455782-?		 NR
NR
NR		 1 x 10-6 (fev1slope)
3 x 10-6 (meanratio)
4 x 10-6 (ppfvc)		 NR
NR
NR		 Affymetrix
[70,897]
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 7p22.2
1p36.32
3p26.1		 Intergenic
Intergenic
Intergenic		 rs10488360-?
rs966321-?
rs4591494-?		 0.30
0.47
0.19		 7 x 10-6
8 x 10-6
9 x 10-6		 NR
NR
NR		 Affymetrix
[70,897]
" Hemostatic factors and hematological phenotypes 1,000 individuals (Framingham NR 1p31.1
5q21.3		 NEGR1
Intergenic		 rs10493485-?
rs4460176-?		 0.29
0.29		 2 x 10-6 (tPA)
3 x 10-6 (PAI-1)		 NR
NR		 Affymetrix
[70,897]
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 NA NA NA NA NS NA Affymetrix
[66,543]
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, 172 sibships 1,207 cases, 1,627 controls NA NA NA NA NS NA Affymetrix
[80,044]
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 NA NA NA NA NS NA Affymetrix
[88,142]
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 NA NA NA NA NS NA Affymetrix
[82,485]
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 1030 cases, 1195 controls 12p11 ITPR2 rs2306677-? 0.07 3 x 10-6 1.58 [1.30-1.91] Illumina
[311,946]
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 9q34 TRAF1-C5 rs3761847-G 0.41 4 x 10-14 1.32 [1.23-1.42] Illumina
[297,086]
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 521 trios, 750 cases, 828 controls 1p31.3
1p31.3		 IL23R
IL23R		 17 marker haplotype-1
17 marker haplotype-2		 0.23
0.97		 1 x 10-8
2 x 10-7		 1.38 [1.23-1.53]
2.56 [1.75-3.70]		 Perlegen
[164,279]
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		 10.20 [NR] % of variance explained
15.80 [NR] % of variance explained
13.10 [NR] % of variance explained		 Illumina
[308,015]
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 0.40 [NR] cm per copy in adult height Affymetrix
[364,301]
Thorleifsson
August 09, 2007
Science
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma 		Exfoliation glaucoma 75 cases, 14,474 controls 254 cases, 198 controls 15q24.1 LOXL1 rs3825942-G 0.85 3 x 10-21 20.10 [10.80-37.41] Illumina
[304,250]
Franke
August 08, 2007
PLoS ONE
Systematic association mapping identifies NELL1 as a novel IBD disease gene 		Irritable bowel syndrome 393 cases, 399 controls 2,920 cases, 1,961 controls, 1,248 trios NA NA NA NA NS NA Affymetrix
[92,387]
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 NA NA NA NA NS NA Affymetrix and Illumina
[776,955]
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]
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)
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 10p15.1
5p13.2
16p13
1p22
9q33		 IL2RA
IL7RA
KIAA0350
RPL5
DBC1		 rs12722489-C
rs6897932-C
rs6498169-G
rs6604026-C
rs10984447-A		 0.85
0.75
0.37
0.29
0.77		 3 x 10-8
3 x 10-7
4 x 10-6
8 x 10-6
8 x 10-6		 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]
Moffatt
July 26, 2007
Nature
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma 		Childhood asthma, ORMDL3 expression 994 cases, 1,243 controls 2,320 cases, 3,301 controls 17q21 Intergenic rs7216389-T 0.52 9 x 10-11 1.45 [1.17-1.81] Illumina
[307,328]
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: (body mass index, hip circumference, body weight) 4,741 individuals 3,205 individuals 16q12.2
16q12.2
16q12.2		 FTO
FTO
FTO		 rs9930506-G
rs9930506-G
rs9930506-G		 0.54
0.54
0.54		 3 x 10-8 (hip)
9 x 10-7 (BMI)
9 x 10-7 (weight)		 -0.16 [NR] SD lower (hip)
-0.13 [NR] SD lower (BMI)
-0.12 [NR] SD lower (weight)		 Affymetrix
[362,129]
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 NA NA NA NA NS NA Illumina
[535,101]
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 1.90 [1.50-2.20] Illumina
[306,937]
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 6q25.1
2q36.3		 MTHFD1L
pseudogene		 rs6922269-A
rs2943634-C		 0.25
0.65		 3 x 10-8
2 x 10-7		 1.23 [1.15-1.33]
1.21 [1.13-1.30]		 Affymetrix
[377,857]
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]
1.50 [1.36-1.66]		 Affymetrix
[236,758]
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 2p24.2 ABCG8 rs11887534-C 0.10 1 x 10-14 2.20 [1.80-2.60] Affymetrix
[382,492]
Hakonarson
July 15, 2007
Nature
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene 		Type 1 diabetes 561 cases, 1,143 controls, 467 trios 1,333 individuals in 549 families; 390 trios 16p13.13 KIAA0350 rs2903692-G 0.62 7 x 10-11 1.54 [1.32-1.79] Illumina
[543,071]
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]
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]
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]
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]
1.20 [1.14-1.27]		 Illumina
[310,520]
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 NA NA NA NA NS NA Illumina
[315,917]
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 4q27 KIA1109,TENR,IL2,IL21 rs6822844-G 0.82 1 x 10-14 1.59 [1.41-1.75] Illumina
[310,605]
Reiman
June 07, 2007
Neuron
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers 		APOE*e4 carriers with late onset Alzheimer's disease 446 cases, 290 controls 415 cases, 260 controls 11q14.1 GAB2 rs2373115-G 0.7 1 x 10-10 4.06 [2.81-14.69] Affymetrix
[312,316]
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
20p13
2q37		 PALB2,NDUFAB1,DCTN5
NR
NR
NR
NR		 rs420259-A
rs6458307-?
rs683395-G
rs3761218-C
rs2953145-C		 0.72
0.69
0.08
0.64
0.23		 6 x 10-8
4 x 10-6
5 x 10-6
7 x 10-6
7 x 10-6		 2.08 [1.60-2.71]
1.19 [1.04-1.33]
1.47 [1.26-1.71]
1.03 [1.15-1.23]
1.84 [1.31-2.58]		 Affymetrix
[469,557]
" Coronary disease 1,926 cases, 2,938 controls (see Samani 2007) 9p21.3
1q43
22q12
16q23		 CDKN2A,CDKN2B
NR
NR
NR		 rs1333049-C
rs17672135-C
rs688034-T
rs8055236-G		 0.47
0.87
0.31
0.20		 1 x 10-13
2 x 10-6
4 x 10-6
6 x 10-6		 1.47 [1.27-1.70]
1.43 [1.23-1.64]
1.11 [0.99-1.25]
1.91 [1.33-2.74]		 Affymetrix
[469,557]
" Crohn's disease 1,748 cases, 2,938 controls (see Parkes 2007) 3p21.31
10q24.2
18p11.21
5q33.1
6p21		 BSN, MST1
NKX2-3
PTPN2
IRGM
NR		 rs9858542-A
rs10883365-G
rs2542151-G
rs1000113-T
rs9469220-A		 0.28
0.48
0.16
0.07
0.48		 4 x 10-8
6 x 10-8
2 x 10-7
3 x 10-7
2 x 10-6		 1.09 [0.96-1.24]
1.20 [1.03-1.39]
1.30 [1.14-1.48]
1.54 [1.31-1.82]
1.14 [0.98-1.32]		 Affymetrix
[469,557]
" Hypertension 1,952 cases, 2,938 controls NR 1q43
15q26		 RYR2,CHRM3,ZP4
NR		 rs2820037-T
rs2398162-A		 0.14
0.26		 8 x 10-7
6 x 10-6		 1.54 [1.03-2.31]
1.03 [0.80-1.32]		 Affymetrix
[469,557]
" Rheumatoid arthritis 1,860 cases, 2,938 controls NR 7q32.3
22q13
21q22
7q32		 Intergenic
NR
NR
NR		 rs11761231-C
rs743777-G
rs2837960-G
rs3816587-C		 0.62
0.29
0.17
0.41		 4 x 10-7 (sex-differentiated)
1 x 10-6
2 x 10-6
9 x 10-6		 1.32 [NR] (women)
1.09 [0.97-1.24]
1.05 [0.93-1.20]
1.09 [0.96-1.25]		 Affymetrix
[469,557]
" Type 1 diabetes 1,963 cases, 2,938 controls (see Todd 2007) 12q24.13
12q13.2
16p13.13
12p13
4q27		 SH2B3,LNK,TRAFD1,PTPN1
ERBB3
KIAA0350
NR
NR		 rs17696736-G
rs11171739-C
rs12708716-A
rs11052552-G
rs17388568-A		 0.42
0.42
0.65
0.49
0.26		 2 x 10-14
1 x 10-11
5 x 10-7
7 x 10-7
3 x 10-6		 1.34 [1.16-1.53]
1.34 [1.17-1.54]
1.19 [0.97-1.45]
1.49 [1.28-1.73]
1.26 [1.11-1.42]		 Affymetrix
[469,557]
" Type 2 diabetes 1,924 cases, 2,938 controls (see Zeggini 2007) 16q12.2
6p22.3
3p14
12q13
12q15		 FTO
CDKAL1
NR
NR
NR		 rs9939609-A
rs9465871-C
rs358806-?
rs12304921-G
rs1495377-G		 0.40
0.18
0.80
0.15
0.50		 2 x 10-7
3 x 10-7
3 x 10-6
7 x 10-6
7 x 10-6		 1.34 [1.17-1.52]
1.18 [1.04-1.34]
1.16 [1.03-1.33]
2.50 [1.53-4.09]
1.28 [1.11-1.49]		 Affymetrix
[469,557]
Parkes
June 06, 2007
Nat Genet
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility 		Crohn's disease 1,748 cases, 2,938 controls 1,182 cases, 2,024 controls 5q33.1
10q24.2
18p11.2
1q31.2
3p21.31		 IRGM
NKX2-3
PTPN2
Intergenic
MST1		 rs13361189-?
rs10883365-?
rs2542151-?
rs10801047-?
rs9858542-?		 0.08
0.48
0.18
0.08
0.29		 2 x 10-10
4 x 10-10
3 x 10-8
3 x 10-8
5 x 10-8		 1.38 [1.15-1.66]
1.18 [1.05-1.32]
1.15 [1.00-1.32]
1.47 [1.22-1.76]
1.17 [1.14-1.31]		 see WTCCC
Todd
June 06, 2007
Nat Genet
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes 		Type 1 diabetes 1,963 cases, 2,938 controls 4,000 cases, 5,000 controls, 2,997 trios 12q13.2
16p13.13
12q24.13
18p11.21
18q22.2		 ERBB3
KIAA0350
C12orf30
PTPN2
CD226		 rs2292239-A
rs12708716-A
rs17696736-G
rs2542151-C
rs763361-A		 0.34
0.68
0.42
0.16
0.47		 2 x 10-20
3 x 10-18
2 x 10-16
1 x 10-14
1 x 10-8		 1.28 [1.21-1.35]
1.23 [1.16-1.30]
1.22 [1.15-1.28]
1.30 [1.22-1.40]
1.16 [1.10-1.22]		 see WTCCC
Easton
May 27, 2007
Nature
Genome-wide association study identifies novel breast cancer susceptibility loci 		Breast cancer 390 cases, 364 controls 26,646 cases, 24,889 controls 10q26.13
16q12.1
5q11.2
8q24.21
11p15.5		 FGFR2
TNCR9,LOC643714
MAP3K1
Intergenic
LSP1		 rs2981582-G
rs3803662-C
rs889312-A
rs13281615-T
rs3817198-T		 0.38
0.25
0.28
0.40
0.30		 2 x 10-76
1 x 10-36
7 x 10-20
5 x 10-12
3 x 10-9		 1.26 [1.23-1.30]
1.20 [1.16-1.24]
1.13 [1.10-1.16]
1.08 [1.05-1.11]
1.07 [1.04-1.11]		 Perlegen
[205,586]
Hunter
May 27, 2007
Nat Genet
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer 		Breast cancer 1,145 cases, 1,142 controls 1,176 cases, 2,072 controls 10q26.13 FGFR2 rs1219648-G 0.40 1 x 10-10 1.20 [1.07-1.42] Illumina
[528,173]
Stacey
May 27, 2007
Nat Genet
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer 		Breast cancer 1,599 cases, 11,546 controls 2,934 cases, 5,967 controls 16q12.1
2q35		 TNRC9
Intergenic		 rs3803662-T
rs13387042-A		 0.27
0.50		 6 x 10-19
1 x 10-13		 1.28 [1.21-1.35]
1.20 [1.14-1.26]		 Illumina
[311,524]
Kindmark
May 15, 2007
Pharmacogenomics J
Genome-wide pharmacogenetic investigation of a hepatic adverse event without clinical signs of immunopathology suggests an underlying immune pathogenesis 		Response to ximelagatran treatment 74 cases, 130 controls 10 cases, 16 controls 6p21.3 DRB1 DRB1*07 NR 9 x 10-6 4.41 [2.20-8.87] Perlegen
[~266,722]
Baum
May 08, 2007
Mol Psychiatry
A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder 		Bipolar disorder 461 cases, 563 controls 772 cases, 876 controls 13q14.11 DGKH rs1012053-A 0.84 2 x 10-8 1.59 [1.35-1.87] Illumina
[555,235] (pooled)
Matarin
May 06, 2007
Lancet Neurol
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release 		Stroke 259 cases, 269 controls NR 18p11.2
13q21.1
7p21
6q21		 IMPA2
Intergenic
Intergenic
AIM1		 rs7506045-?
rs9536591-?
rs10486776-?
rs783396-?		 NR
NR
NR
NR		 7 x 10-7
6 x 10-6
6 x 10-6
9 x 10-6		 5.39 [2.77-10.5]
1.92 [1.41-2.63]
5.62 [2.66-11.9]
2.17 [1.47-3.13]		 Illumina
[408,803]
Helgadottir
May 03, 2007
Science
A common variant on chromosome 9p21 affects the risk of myocardial infarction 		Myocardial infarction 1,607 cases, 6,728 controls 2,980 cases, 6,309 controls 9p21.3 CDKN2A,CDKN2B rs10757278-G 0.45 1 x 10-20 1.28 [1.22-1.35] Illumina
[305,953]
McPherson
May 03, 2007
Science
A common allele on chromosome 9 associated with coronary heart disease 		Coronary disease 322 cases, 312 controls 3,984 cases, 19,807 controls NA NA NA NA NS NA Perlegen
[72,864]
Huentelman
April 30, 2007
Hum Mol Genet
Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance 		Episodic memory 341 young adults 472 young adults NA NA NA NA NS NA Affymetrix
[~502,627] (pooled)
Saxena
April 26, 2007
Science
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels 		Type 2 diabetes 1,464 cases, 1,467 controls 5,065 cases, 5,785 controls 3q27.2
9p21.3
6p22.3		 IGF2BP2
CDKN2A,CDKN2B
CDKAL1		 rs4402960-T
rs10811661-T
rs7754840-C		 0.29
0.83
0.31		 9 x 10-16
8 x 10-15
4 x 10-11		 1.14 [1.11-1.18]
1.20 [1.14-1.25]
1.12 [1.08-1.16]		 Affymetrix
[386,731]
Scott
April 26, 2007
Science
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants 		Type 2 diabetes 1,161 cases, 1,174 controls 1,215 cases, 1,258 controls 3q27.2
9p21.3
6p22.3
11p12		 IGF2BP2
CDKN2A, CDKN2B
CDKAL1
Intergenic		 rs4402960-T
rs10811661-T
rs7754840-C
rs9300039-C		 0.30
0.85
0.36
0.89		 9 x 10-16
8 x 10-15
4 x 10-11
4 x 10-7		 1.14 [1.11-1.18]
1.20 [1.14-1.25]
1.12 [1.08-1.16]
1.25 [1.15-1.37]		 Illumina
[315,635]
Steinthorsdottir
April 26, 2007
Nat Genet
A variant in CDKAL1 influences insulin response and risk of type 2 diabetes 		Type 2 diabetes 1,399 EA cases, 5,275 EA controls 2,437 EA cases, 7,287 EA controls 6p22.3 CDKAL1 rs7756992-G 0.26 8 x 10-9 1.20 [1.13-1.27] Illumina
[313,179 SNPs; 339,846 2-SNP haplotypes]
Zeggini
April 26, 2007
Science
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes 		Type 2 diabetes 1,924 cases, 2,938 controls 3,757 cases, 5,346 controls 3q27.2
9p21.3
16q12.2
6p22.3
10q23.33		 IGFBP2
CDKN2B
FTO
CDKAL1
HHEX		 rs4402960-T
rs10811661-T
rs8050136-A
rs10946398-C
rs5015480-C		 0.32
0.83
0.60
0.32
0.43		 9 x 10-16
8 x 10-15
1 x 10-12
4 x 10-11
6 x 10-10		 1.14 [1.11-1.18]
1.20 [1.14-1.25]
1.17 [1.12-1.22]
1.12 [1.08-1.16]
1.13 [1.08-1.17]		 Affymetrix
[393,453]
Rioux
April 15, 2007
Nat Genet
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis 		Crohn's disease 946 cases, 977 controls 530 trios, 353 cases, 207 controls 2q37.1
10q21.2		 ATG16L1
Intergenic		 rs2241880-G
rs224136-?		 0.55
0.19		 1 x 10-13
1 x 10-10		 1.45 [1.27-1.64]
1.67 [NR]		 Illumina
[304,413]
Frayling
April 12, 2007
Science
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity 		Body mass index 10,657 adults 19,424 adults, 10,172 children 16q12.2 FTO rs9939609-A 0.39 2 x 10-20 0.36 [NR] kg/m2 per copy in adults Affymetrix
[490,032]
Uhl
April 03, 2007
BMC Genetics
Molecular genetics of nicotine dependence and abstinence: whole genome association using 520,000 SNPs 		Nicotine dependence 134 cases, 320 controls NR NA NA NA NA NS NA Affymetrix
[~520,000] (pooled)
Coon
April 01, 2007
J Clin Psychiatry
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease 		Late onset Alzheimer's disease 664 cases, 422 controls NR NA NA NA NA NS NA Affymetrix
[~502,627]
Gudmundsson
April 01, 2007
Nat Genet
Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24 		Prostate cancer 1,435 cases, 3,064 controls 1,210 EA cases, 2,445 EA controls; 373 AA cases, 372 AA controls 8q24.21
8q24.21		 Intergenic
Intergenic		 HapC
rs16901979-A		 0.02 (EA)
0.03 (EA)		 3 x 10-15 (EA)
1 x 10-12 (EA)		 2.10 [1.75-2.53] (EA)
1.79 [1.53-2.11] (EA)		 Illumina
[316,515]
Hanson
April 01, 2007
Diabetes
Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study 		End-stage renal disease 105 cases, 102 controls NR 8q24.21 PVT1 rs2648875-A 0.53 2 x 10-6 2.97 [1.90-4.65] Affymetrix
[115,352]
Yeager
April 01, 2007
Nat Genet
Genome-wide association study of prostate cancer identifies a second risk locus at 8q24 		Prostate cancer 1,172 cases, 1,157 controls 3,124 cases, 3,142 controls 8q24.21 Intergenic rs6983267-G 0.5 9 x 10-13 1.26 [1.13-1.41] Illumina
[538,548]
Lencz
March 20, 2007
Mol Psychiatry
Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia 		Schizophrenia 178 cases, 144 controls NR Xp22.33,Yp11.32 CSF2RA rs4129148-C NR 4 x 10-7 3.23 [2.04-5.15] (homozygote) Affymetrix
[439,511]
Melquist
March 08, 2007
Am J Hum Genet
Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms 		Progressive supranuclear palsy 288 cases, 344 controls 213 cases, 391 controls NA NA NA NA NS NA Affymetrix
[428,867]
Libioulle
March 05, 2007
PLoS Genet
Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4 		Crohn's disease 547 cases, 928 controls 1,266 cases, 559 controls, 428 trios 5p13.1 Intergenic rs1373692-? 0.59 2 x 10-12 1.46 [NR] Illumina
[302,451]
Schymick
February 20, 2007
Lancet Neurol
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data 		Amyotrophic lateral sclerosis 276 cases, 276 controls NR 10q26.13
2p24
8q24.2
20q13.2
9q31.3		 Intergenic
Intergenic
Intergenic
ZFP64
SUSD1		 rs4363506-?
rs16984239-?
rs12680546-?
rs6013382-?
rs2782931-?		 NR
NR
NR
NR
NR		 7 x 10-7
2 x 10-6
3 x 10-6
5 x 10-6
6 x 10-6		 1.90 [1.50-2.40]
2.10 [1.50-3.00]
1.67 [1.25-2.00]
1.43 [1.11-1.67]
1.11 [0.91-1.43]		 Illumina
[549,062]
Sladek
February 11, 2007
Nature
A genome-wide association study identifies novel risk loci for type 2 diabetes 		Type 2 diabetes 1,380 cases, 1,323 controls 2,617 cases, 2,894 controls 8q24.11
10q23.33		 SLC30A8
HHEX		 rs13266634-C
rs1111875-G		 0.3
0.4		 6 x 10-8
3 x 10-6		 1.18 [0.69-1.67]
1.19 [0.82-1.56]		 Illumina
[392,935]
Spinola
January 16, 2007
Cancer Lett
Genome-wide single nucleotide polymorphism analysis of lung cancer risk detects the KLF6 gene 		Lung cancer 338 Italian lung adenocarcinoma cases, 335 Italian controls 265 Norwegian non-small lung carcinoma cases 356 Norwegian controls NA NA NA NA NS NA Affymetrix
[116,204] (pooled)
Bierut
December 07, 2006
Hum Mol Genet
Novel genes identified in a high-density genome wide association study for nicotine dependence 		Nicotine dependence 1,050 cases, 879 controls NR 21q22.2
10q21.3		 NR
CTNNA3		 rs2836823-T
rs4142041-G		 0.40
0.34		 2 x 10-6
6 x 10-6		 1.46 [1.23-1.73]
1.14 [0.97-1.35]		 Perlegen
[2.4 million] (pooled)
Liu
December 05, 2006
Am J Med Genet B Neuropsychiatr Genet
Addiction molecular genetics: 639,401 SNP whole genome association identifies many "cell adhesion" genes 		Addiction 980 cases, 680 controls NR NA NA NA NA NS NA Affymetrix
[639,401]
Duerr
October 26, 2006
Science
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene 		Inflammatory bowel disease 547 cases, 548 controls 401 cases, 433 controls, 883 families, 1,119 affected offspring 1p31
1p31		 IL23R
IL23R		 rs7517847-C
rs11209026-A		 0.56
0.93		 4 x 10-13
4 x 10-11		 1.61 [1.35-1.92]
3.84 [2.33-6.66] (non-Jewish)		 Illumina
[308,332]
Papassotiropoulos
October 20, 2006
Science
Common Kibra alleles are associated with human memory performance 		Memory performance 341 individuals 680 individuals NA NA NA NA NS NA Affymetrix
[178,390]
DeWan
October 19, 2006
Science
HTRA1 promoter polymorphism in wet age-related macular degeneration 		Wet age-related macular degeneration 96 Southeast Asian cases, 130 Southeast Asian controls NR 10q26 HTRA1 rs11200638-A NR 8 x 10-12 1.60 [0.71-3.61] Affymetrix
[97,824]
Fung
September 28, 2006
Lancet Neurol
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data 		Parkinson's disease 267 cases, 270 controls NR 10q11.21
4q13.2
11q14		 Intergenic
BRDG1
DLG2		 rs1480597-?
rs2242330-?
rs10501570-?		 NR
NR
NR		 2 x 10-6
2 x 10-6
7 x 10-6		 2.50 [1.67-3.33]
2.00 [1.43-2.50]
5.00 [2.00-12.50]		 Illumina
[408,803]
Arking
April 30, 2006
Nat Genet
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization 		QT interval prolongation 100 > 445ms, 100 < 386ms 200 > 85th pct, 200 < 15th pct, 7,817 cohort members 1q23.3 NOS1AP rs10494366-? 0.36 1 x 10-10 4.90 - 7.9 [NR] msec difference between homozygotes Affymetrix
[88,500]
Herbert
April 14, 2006
Science
A common genetic variant is associated with adult and childhood obesity 		Obesity 694 offspring 3,489 cases, 6,392 controls, 361 trios NA NA NA NA NS NA Affymetrix
[86,604]
Maraganore
September 09, 2005
Am J Hum Genet
High-resolution whole-genome association study of Parkinson disease 		Parkinson's disease 443 sib pairs 332 cases, 332 controls 5p15.2 SEMA5A rs7702187-? NR 8 x 10-6 1.74 [1.36-2.24] Perlegen
[198,345]
Klein
March 10, 2005
Science
Complement factor H polymorphism in age-related macular degeneration 		Age-related macular degeneration 96 cases 50 controls NR 1q31 CFH rs380390-C 0.70 (HapMap CEU) 4 x 10-8 4.60 [2.0-11] Affymetrix
[103,611]
 
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