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A Catalog of Published Genome-Wide Association Studies

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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 copy number variants or 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.

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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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]
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	Pending	Pending	Pending	Pending	Pending	Pending	Illumina [392,935]
Chen June 06, 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	Pending	Pending	Pending	Pending	Pending	Pending	Illumina [315,635]
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	Pending	Pending	Pending	Pending	Pending	Pending	Illumina [538,629]
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	Pending	Pending	Pending	Pending	Pending	Pending	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	Pending	Pending	Pending	Pending	Pending	Pending	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	Pending	Pending	Pending	Pending	Pending	Pending	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	10 x 10-16	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	Skin pigmentation and hair color	5,130 individuals	3,330 individuals	Pending	Pending	Pending	Pending	Pending	Pending	Illumina [316,515]
Han May 16, 2008 PLoS Genet A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation	Hair color and skin pigmentation	2,287 women	8,465 individuals	Pending	Pending	Pending	Pending	Pending	Pending	Illumina [528,173]
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	IL6R	rs4129267-C	0.37	2 x 10-57	NR	Illumina [496,032]
Maris May 08, 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	Pending	Pending	Pending	Pending	Pending	Pending	Illumina [464,934]
Valdes May 07, 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	Pending	Pending	Pending	Pending	Pending	Pending	Illumina [413,461]
Chambers May 04, 2008 Nat Genet Common genetic variation near MC4R is associated with waist circumference and insulin resistance	Insulin resistance and related phenotypes	2,684 Asian Indian men	11,955 Asian Indian and European individuals	Pending	Pending	Pending	Pending	Pending	Pending	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	Pending	Pending	Pending	Pending	Pending	Pending	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	Pending	Pending	Pending	Pending	Pending	Pending	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	8q24.12 11q13.2	TNFRSF11B LRP5	rs4355801-A rs3736228-T	0.53 0.14	8 x 10^-10 6 x 10^-12	0.09 [NR] SD decrease 0.13 [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	5,861 individuals	7,925 individuals	Pending	Pending	Pending	Pending	Pending	Pending	Illumina [301,019]
Reiner April 24, 2008 Am J Hum Genet Polymorphisms of the HNF1A Gene Encoding Hepatocyte Nuclear Factor-1alpha 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 6q24 4q31 6p24	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	7.4 (0.7) % SD taller 5.9 (0.8) % SD taller 6.5 (0.9) % SD taller 8.3 (1.2) % SD taller 6.8 (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	Among males: 0.07 [0.04-0.09] SD taller 0.09 [0.06-0.12] SD taller 0.05 [0.03-0.08] SD taller 0.08 [0.05-0.11] SD shorter 0.07 [0.03-0.11] SD shorter	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 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	rs8034191-C	0.34	5 x 10^-20	1.21 [1.11-1.31]	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	CHRNA3,CHRNA5,CHRNB4	rs1051730-T	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 LC: 1.31 [1.19-1.44] PAD: 1.19 [1.12-1.27]	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	8q24.21 11q23.1 18q21.1	DQ515897 Intergenic SMAD7	rs7014346-A rs3802842-C rs4939827-T	0.18 0.43 0.17	9 x 10^-26 6 x 10^-10 8 x 10^-28	1.19 [1.15-1.23] 1.11 [1.08-1.15] 1.20 [1.16-1.24]	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	10p14 8q23.3	Intergenic EIF3H	rs10795668-C rs16892766-A	0.67 0.07	3 x 10^-13 13 x 10^-18	1.15 [1.10-1.20] 1.27 [1.20-1.34]	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	Pending	Pending	Pending	Pending	Pending	Pending	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/m�), 2,916 lean individuals (BMI < 25 kg/m�)	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 2q12.1 3q25.33 3q28 6q25.3	RGS1 IL1RL1,IL18R1,IL18RAP, SLC9A4 IL12A, SCHIP1 LPP TAGAP	rs2816316-C rs13015714-C rs17810546-G rs1464510-A rs1738074-A	NR NR NR NR NR	3 x 10^-11 4 x 10^-9 1 x 10^-9 5 x 10^-9 7 x 10^-8	0.71 [0.63-0.80] 1.27 [1.15-1.40] 1.34 [1.19-1.51] 1.21 [1.11-1.31] 1.21 [1.11-1.31]	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)
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 10q26.13 11q13.2 7p15.2	MSMB CTBP2 Intergenic JAZF1	rs10993994-T rs4962416-C rs10896449-G rs10486567-G	0.40 0.27 0.52 0.77	7 x 10^-13 2 x 10^-7 2 x 10^-9 2 x 10^-6	1.16 [1.04-1.29] 1.17 [1.05-1.30] 1.10 [0.98-1.23] 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	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	11p15.4 2p15	HBB BCL11A	rs4910742-A rs1186868-T	0.07 0.20	2 x 10^-21 7 x 10^-35	0.58 [NR] SD decrease in HbF 0.48 [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	1,887 males, 1,702 females	1,248 men, 1,663 women	4p16.3	RNF212	rs3796619-T (men) rs1670533-C (women)	0.33 (men and women combined) 0.23 (men and women	3 x 10^-24 (men) 2 x 10^-12 (women)	70.7 [84.3-57.1] cM decrease in men 88.2 [63.7-112.7] cM increase in women	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	8p23.1 16p11.2	C8orf13, BLK ITGAM-ITGAX	rs13277113-A rs11574637-C	0.23 0.19	1 x 10^-10 3 x 10^-11	1.39 [1.28-1.51] 1.33 [1.22-1.46]	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 lowe	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	10.5 [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	12q24.11 1q42.13	MVK,MMAB GALNT2	rs2338104-G rs2144300-C	0.45 NR	3 x 10^-8 3 x 10^-14	0.48 [NR] mg/dl higher 1.11 [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	0.024 [0.018-0.030] mMol/L increase	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 mMol/L [0.02-0.03] increase	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]
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 cases, 160 controls	14q21.1	NR	rs10498345-T	0.3	9 x 10^-7	0.43 [0.31-0.61]	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	NS	NA	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	12q21.33 14q32.12	KITLG SLC24A4	rs12821256-C rs4904868-C+/rs2402130-A	0.15 0.60	2 x 10^-14 9 x 10^-24	2.32 [1.86-2.92] 2.56 [2.12-3.09]	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 11q14.3 5p13.3	SLC24A5 TYR SLC45A2	rs1834640-G rs1042602-C rs16891982-C	0.30 0.90 0.97	1 x 10^-50 4 x 10^-10 3 x 10^-11	12.5 [8.33-20.0] 4.36 [2.64-7.20] 4.86 [2.88-8.21]	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	Systemic lupus erythematosus	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	1 x 10^-14(MCP1) 4 x 10^-12(MCP1) 3 x 10^-8(CRP average 2,6,7) 5 x 10^-7(TNFA) 8 x 10^-7(CRP6)	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	1 x 10^-7 (BMI) 2 x 10^-6 (BMI) 8 x 10^-6 (BMI)	NR	Affymetrix [70,897]
"	Waist circumference traits	1,341 individuals (Framingham)	NR	8q21.1 3q13.31	GDAP1 Intergenic	rs4471028-? rs1875517-?	NR	2 x 10^-7 (WC) 2 x 10^-6 (WC)