Skip Navigation
NIH

Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


Update (5/12/15): The NHGRI-EBI GWAS Catalog has moved to the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) at  http://www.ebi.ac.uk/gwas. Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to gwas-info@ebi.ac.uk.

Why has the catalog moved to EMBL-EBI?
From September 2010 to the present, delivery and development of the Catalog has been a collaborative project between EMBL-EBI and NHGRI. In March 2015 the Catalog infrastructure moved to EMBL-EBI to enable delivery of an improved user interface, including ontology driven Catalog searching, and new curatorial infrastructure, supporting improved QC processes. Catalog content available through this original GWAS Catalog website was last updated on February 20th 2015 with all previous and updated content available at EMBL-EBI. 


 

Sound file Current uses of and future directions for the Genome-Wide Association Studies Catalog
On Thursday, July 18th, 2013, the Division of Genomic Medicine held a webinar to highlight current uses and explore  priorities and future directions for the GWAS catalog. See archived video and presentations.

The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsPDF file
Click here to read our recent article from the Nucleic Acids Research Database Issue.

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

 

Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio, NHGRI; Tony Burdett, Dani Welter, and Helen Parkinson, EBI

 
An archived tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File
 

The genome-wide association study (GWAS) publications listed here include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content.  GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria.  Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible.  Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

Gene names and risk alleles are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.

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

How to cite the NHGRI GWAS Catalog:
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed [date of access].

How to cite the NHGRI GWAS Catalog paper:
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L, and Parkinson H. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 2014, Vol. 42 (Database issue): D1001-D1006.

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

To view the PDF(s) on this page you will need Adobe Reader. Download Adobe Reader

 

 

 





Notice: The updated Catalog content may now be searched at http://www.ebi.ac.uk/gwas/.

An archived, tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File

Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Description
Replication Sample Description Region Reported Gene(s) Mapped Gene(s) Strongest SNP-Risk Allele Context Risk Allele Frequency in Controls P-value
OR or beta-coefficient and [95% CI]
Platform
[SNPs passing QC]
CNV
07/23/14 Dichgans M
November 21, 2013
Stroke
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Coronary artery disease 33,398 cases, 75,726 controls NA 19p13.2 LDLR, SMARCA4 SMARCA4 rs1122608-T intron NR 3 x 10-11 1.1364 [1.09-1.18] Illumina
[575,000] (imputed)
N
07/23/14 " Coronary artery disease or ischemic stroke 12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls NA 19p13.2 LDLR, SMARCA4 SMARCA4 rs1122608-? intron 3 x 10-12 NR Affymetrix & Illumina
[up to 2.5 million] (imputed)
N
07/23/14 " Coronary artery disease or large artery stroke 2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls NA 19p13.2 LDLR, SMARCA4 SMARCA4 rs1122608-? intron 2 x 10-11 NR Affymetrix & Illumina
[up to 2.5 million] (imputed)
N
05/12/14 Willer CJ
October 06, 2013
Nat Genet
Discovery and refinement of loci associated with lipid levels.
Cholesterol, total 94,595 European ancestry individuals 93,982 European ancestry individuals 19p13.2 LDLR LDLR rs6511720-T intron 0.12 5 x 10-202 .185 [NR] unit decrease NR (Imputed) N
05/12/14 " LDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 19p13.2 LDLR LDLR rs6511720-T intron 0.12 4 x 10-262 .221 [NR] unit decrease NR (Imputed) N
05/12/14 " LDL cholesterol 94,595 European ancestry individuals up to 4,420 African ancestry individuals 19p13.2 LDLR LDLR rs6511720-? intron 0.13 3 x 10-115 NR NR (Imputed) N
03/26/14 Bradley DT
September 17, 2013
Circ Cardiovasc Genet
A variant in LDLR is associated with abdominal aortic aneurysm.
Abdominal aortic aneurysm 1,755 European ancestry cases, 5,314 European ancestry controls 1,658 European ancestry cases, 28,962 European ancestry controls, 1,725 cases, 3,791 controls 19p13.2 LDLR LDLR rs6511720-? intron 0.901 2 x 10-10 1.32 [1.20-1.43] Illumina
[503,892]
N
11/29/13 Coram MA
May 29, 2013
Am J Hum Genet
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
LDL cholesterol 7,861 African American individuals, 3,425 Hispanic individuals 7,138 African American individuals 19p13.2 LDLR LDLR rs17249141-T nearGene-5 0.0126 2 x 10-17 (AA) 32.93 [NR] unit decrease Affymetrix
[NR]
N
11/21/12 Inouye M
August 16, 2012
PLoS Genet
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
Metabolite levels 6,608 European ancestry individuals NA 19p13.2 LDLR LDLR rs6511720-? intron 0.10 4 x 10-9 NR Illumina
[~2 million] (imputed)
N
02/28/12 Kettunen J
January 29, 2012
Nat Genet
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
Lipid metabolism phenotypes 8,330 European ancestry individuals NA 19p13.2 LDLR SMARCA4 - LDLR rs55791371-? NR 8 x 10-17 (M-LDL-C/M-LDL-PL) .26 [0.2-0.32] unit decrease Illumina
[~7.7 million] (imputed)
N
11/16/11 Grallert H
October 14, 2011
Eur Heart J
Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies.
Lipoprotein-associated phospholipase A2 activity and mass 12,126 European ancestry individuals, 1,538 individuals NA 19p13.2 LDLR LDLR rs6511720-T intron 0.10 3 x 10-11 (Activity concentrations) .045 [0.031-0.059] unit decrease Affymetrix & Illumina
[2,661,766] (imputed)
N
10/20/11 Middelberg RP
September 24, 2011
BMC Med Genet
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
Cardiovascular disease risk factors 11,683 European ancestry individuals NA 19p13.2 LDLR LDLR rs6511720-T intron 0.11 5 x 10-11 (LDL) .148 [0.10-0.19] mmol/l decrease Illumina
[NR] (imputed)
N
10/07/11 Bis JC
September 11, 2011
Nat Genet
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
Carotid intima media thickness Up to 31,211 European ancestry individuals 11,273 European ancestry individuals 19p13.2 LDLR LDLR rs6511720-T intron NR 1 x 10-7 (Plaque) .1778 [0.11-0.25] unit decrease Affymetrix & Illumina
[~2.5 million] (imputed)
N
10/11/11 Kim YJ
September 11, 2011
Nat Genet
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
Metabolite levels 12,545 Korean ancestry individuals Up to 30,395 East Asian ancestry individuals 19p13.2 LDLR LDLR rs2738446-C intron 0.14 2 x 10-12 (LDL) 2.9507 [2.13-3.77] mg/dL increase Affymetrix
[~2.2 million] (imputed)
N
04/11/11 Schunkert H
March 06, 2011
Nat Genet
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Coronary heart disease 22,233 European ancestry cases, 64,762 European ancestry controls 56,682 European ancestry cases and controls 19p13.2 LDLR SMARCA4 rs1122608-G intron 0.77 1 x 10-9 1.14 [1.09-1.18] Affymetrix & Illumina {~2.3 million] (imputed) N
10/17/10 Waterworth DM
September 23, 2010
Arterioscler Thromb Vasc Biol
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
LDL cholesterol up to 17,723 European ancestry individuals up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals 19p13.2 LDLR LDLR rs2738459-C intron 0.48 7 x 10-6 .02 [0.01-0.03] unit decrease Affymetrix, Illumina & Perlegen
[2,155,369] (imputed)
N
01/25/12 Teslovich TM
August 05, 2010
Nature
Biological, clinical and population relevance of 95 loci for blood lipids.
Cholesterol, total 100,184 European ancestry individuals NA 19p13.2 LDLR LDLR rs6511720-T intron 0.11 7 x 10-97 7.09 [6.42-7.76] mg/dL decrease Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
01/25/12 " LDL cholesterol 95,454 European ancestry individuals NA 19p13.2 LDLR LDLR rs6511720-T intron 0.11 4 x 10-117 6.99 [6.4-7.58] mg/dL decrease Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
09/24/13 Chasman DI
November 20, 2009
PLoS Genet
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
Lipid metabolism phenotypes Up to 17,296 European ancestry female individuals Up to 2,700 individuals, Up to 2,000 European ancestry cardiovascular heart disease cases and controls 19p13.2 LDLR LDLR rs6511720-? intron NR 2 x 10-31 (LDL-C.assay, whole) 6.532 [NR] unit decrease Illumina
[335,603]
N
19p13.2 LDLR LDLR rs6511720-? intron NR 1 x 10-25 (LDL-C.assay, fasting) 6.892 [NR] unit decrease
19p13.2 LDLR LDLR rs6511720-? intron NR 5 x 10-25 (APOB.assay, whole) 4.516 [NR] unit decrease
19p13.2 LDLR LDLR rs6511720-? intron NR 3 x 10-18 (APOB.assay, fasting) 4.492 [NR] unit decrease
03/01/09 Kathiresan S
February 08, 2009
Nat Genet
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
Myocardial infarction (early onset) 2,967 European ancestry cases, 3,075 European ancestry controls 9,746 European ancestry cases, 9,746 European ancestry controls 19p13.2 LDLR SMARCA4 rs1122608-G intron 0.75 2 x 10-9 1.15 [1.10-1.20] Affymetrix
[~2.5 million] (imputed)
N
01/12/09 Aulchenko YS
December 07, 2008
Nat Genet
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
Cholesterol, total 21,848 European ancestry individuals, 714 Orcadian individuals NA 19p13.2 LDLR LDLR rs2228671-G cds-synon 0.88 9 x 10-24 .16 [NR] s.d. increase Illumina and Affymetrix
[up to ~600,000]
N
01/12/09 " LDL cholesterol 17,083 European ancestry individuals, 714 Orcadian individuals NA 19p13.2 LDLR LDLR rs2228671-G cds-synon 0.88 4 x 10-14 .14 [NR] s.d. increase Illumina and Affymetrix
[up to 600,000]
N
01/12/09 Kathiresan S
December 07, 2008
Nat Genet
Common variants at 30 loci contribute to polygenic dyslipidemia.
LDL cholesterol 19,840 European ancestry individuals Up to 20,623 European ancestry individuals 19p13.2 LDLR LDLR rs6511720-T intron 0.10 2 x 10-26 .26 [0.18-0.34] s.d. increase Affymetrix and Illumina
[~2,600,000] (imputed)
N
01/12/09 Sabatti C
December 07, 2008
Nat Genet
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
LDL cholesterol 4,763 Northern Finnish founder individuals NA 19p13.2 LDLR SMARCA4 - LDLR rs11668477-G 0.18 2 x 10-7 .13 [0.08-0.17] mmol/l decrease Illumina
[329,091]
N
11/25/08 Kathiresan S
January 13, 2008
Nat Genet
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
LDL cholesterol 2,758 European ancestry individuals 18,544 European ancestry individuals 19p13.2 LDLR LDLR rs6511720-T intron 0.10 2 x 10-51 .26 [0.22-0.30] % SD lower Affymetrix
[389,878]
N
11/25/08 Willer CJ
January 13, 2008
Nat Genet
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
LDL cholesterol 8,589 European ancestry individuals 12,981 European ancestry individuals 19p13.2 LDLR LDLR rs6511720-G intron 0.90 4 x 10-26 9.17 [NR] mg/dl higher Illumina and Affymetrix
[~2,261,000] (imputed)
N




Top of page

Catalog Data Last Updated: February 20, 2015
Web Page Text Last Updated: September 16, 2015