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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
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 2p24.1 APOB APOB rs1367117-A missense 0.32 3 x 10-139 .1 [NR] unit increase NR (Imputed) N
05/12/14 " LDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 2p24.1 APOB APOB rs1367117-A missense 0.32 1 x 10-182 .119 [NR] unit increase NR (Imputed) 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 2p24.1 APOB APOB rs12713956-G intron 0.183 4 x 10-8 (AA) 4.86 [NR] unit decrease Affymetrix
[NR]
N
03/06/13 Makela KM
December 17, 2012
Circ Cardiovasc Genet
Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium.
LDL (oxidized) 2,080 European ancestry individuals 4,238 European ancestry individuals 2p24.1 apoB APOB rs676210-G missense 0.77 3 x 10-47 10.5 (U/L increase) Illumina
[2,543,887] (imputed)
N
01/30/13 Chu AY
November 01, 2012
Circ Cardiovasc Genet
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
Lipoprotein-associated phospholipase A2 activity and mass 6,851 European ancestry individuals 13,664 European ancestry individuals 2p24.1 APOB APOB rs6413458-T missense 0.02 2 x 10-7 (mass) .0398 [0.0088-0.0708] ng/ml decrease Illumina
[796,174]
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 2p24.1 APOB APOB rs673548-? intron 0.27 1 x 10-13 NR Illumina
[~2 million] (imputed)
N
04/03/12 Kristiansson K
March 07, 2012
Circ Cardiovasc Genet
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
Metabolic syndrome 2,637 European ancestry cases, 7,927 European ancestry controls NA 2p24.1 APOB APOB rs673548-G intron 0.73 1 x 10-10 (HDL) .11 [NR] mmol/l decrease Illumina
[1,257,079] (imputed)
N
2p24.1 APOB C2orf43 - APOB rs6711016-C 0.71 4 x 10-8 (TG) .08 [NR] mmol/l increase
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 2p24.1 APOB APOB rs10199768-T intron 0.47 8 x 10-15 (LDL) .11 [0.083-0.137] mmol/l increase Illumina
[NR] (imputed)
N
01/14/11 Shen H
November 08, 2010
Arch Intern Med
Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.
LDL cholesterol 841 Amish individuals 663 Amish inidividuals 2p24.1 APOB C2orf43 rs4971516-? intron 0.06 2 x 10-52 (LDL) NR Affymetrix
[369,241]
N
2p24.1 APOB C2orf43 rs4971516-? intron 0.06 2 x 10-40 (total cholesterol) NR
11/15/10 Kerns SL
October 05, 2010
Int J Radiat Oncol Biol Phys
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
Erectile dysfunction and prostate cancer treatment 27 African American cases, 52 African American controls NA 2p24.1 APOB TDRD15 - RNA5SP87 rs219553-? 0.42 7 x 10-6 5.56 [NR] Affymetrix
[512,497]
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.
HDL cholesterol up to 17,723 European ancestry individuals up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals 2p24.1 APOB C2orf43 - APOB rs11902417-G 0.78 4 x 10-7 .02 [0.01-0.03] unit decrease Affymetrix, Illumina & Perlegen
[2,155,369] (imputed)
N
10/17/10 " LDL cholesterol up to 17,723 European ancestry individuals up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals 2p24.1 APOB APOB - TDRD15 rs515135-A 0.19 2 x 10-20 .04 [0.03-0.05] unit decrease Affymetrix, Illumina & Perlegen
[2,155,369] (imputed)
N
10/17/10 " Triglycerides up to 17,723 European ancestry individuals up to 37,774 European ancestry individuals, up to 9,665 Indian Asian ancestry individuals 2p24.1 APOB C2orf43 - APOB rs6544366-T 0.22 2 x 10-7 .04 [0.03-0.05] 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 2p24.1 APOB APOB rs1367117-A missense 0.3 4 x 10-96 4.16 [3.73-4.59] mg/dL increase Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
01/25/12 " HDL cholesterol 99,900 European ancestry individuals NA 2p24.1 APOB APOB rs1042034-C missense 0.22 1 x 10-30 .9 [0.72-1.08] mg/dL increase Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
01/25/12 " LDL cholesterol 95,454 European ancestry individuals NA 2p24.1 APOB APOB rs1367117-A missense 0.3 4 x 10-114 4.05 [3.68-4.42] mg/dL increase Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
01/25/12 " Triglycerides 96,598 European ancestry individuals NA 2p24.1 APOB APOB rs1042034-C missense 0.22 1 x 10-45 5.99 [5.11-6.87] mg/dL decrease Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
09/10/10 Johansen CT
July 25, 2010
Nat Genet
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
Hypertriglyceridemia 463 European ancestry cases, 1,197 European ancestry controls NA 2p24.1 APOB TDRD15 - RNA5SP87 rs4635554-G 0.31 2 x 10-7 1.67 [1.38-2.02] Affymetrix
[~2.1 million] (imputed)
N
04/14/10 Barber MJ
March 22, 2010
PLoS One
Genome-wide association of lipid-lowering response to statins in combined study populations.
Response to statin therapy 3,928 European ancestry individuals NA 2p24.1 APOB, FLJ21820, GDF7 APOB - TDRD15 rs541041-G 0.16 8 x 10-6 (LDL, sum) NR Illumina
[~2.5 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 View full set of 12 SNPs Illumina
[335,603]
N
2p24.1 APOB APOB rs676210-? missense NR 9 x 10-56 (VLDL.total, whole) 6.384 [NR] unit decrease
2p24.1 APOB APOB rs676210-? missense NR 4 x 10-64 (VLDL.small, whole) 4.219 [NR] unit decrease
2p24.1 APOB C2orf43 - APOB rs6754295-? NR 4 x 10-47 (VLDL.small, fasting) 4.127 [NR] unit decrease
2p24.1 APOB APOB rs673548-? intron NR 5 x 10-42 (VLDL.total, fasting) 6.624 [NR] unit decrease
2p24.1 APOB TDRD15 - RNA5SP87 rs506585-? NR 3 x 10-31 (APOB.assay, whole) 4.093 [NR] unit decrease
2p24.1 APOB TDRD15 - RNA5SP87 rs506585-? NR 1 x 10-25 (APOB.assay, fasting) 4.355 [NR] unit decrease
2p24.1 APOB APOB rs1367117-? missense NR 6 x 10-25 (LDL-C.assay, whole) 4.027 [NR] unit increase
2p24.1 APOB TDRD15 - RNA5SP87 rs506585-? NR 2 x 10-22 (LDL.total, whole) .04 [NR] unit decrease
2p24.1 APOB TDRD15 - RNA5SP87 rs312985-? NR 1 x 10-17 (LDL.total, fasting) .041 [NR] unit decrease
2p24.1 APOB APOB rs1367117-? missense NR 2 x 10-17 (LDL-C.assay, fasting) 3.916 [NR] unit increase
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 2p24.1 APOB APOB rs693-G cds-synon 0.52 9 x 10-23 .1 [NR] s.d. decrease Illumina and Affymetrix
[up to ~600,000]
N
01/12/09 " HDL cholesterol 20,697 European ancestry individuals, 715 Orcadian individuals NA 2p24.1 APOB C2orf43 - APOB rs6754295-C 0.25 4 x 10-8 .07 [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 2p24.1 APOB APOB rs693-G cds-synon 0.52 4 x 10-17 .1 [NR] s.d. decrease Illumina and Affymetrix
[up to 600,000]
N
01/12/09 " Triglycerides 17,100 European ancestry individuals, 715 Orcadian individuals NA 2p24.1 APOB C2orf43 - APOB rs6754295-C 0.25 3 x 10-8 .08 [NR] s.d. decrease 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 2p24.1 APOB APOB - TDRD15 rs515135-T 0.20 5 x 10-29 .16 [0.12-0.20] s.d. decrease Affymetrix and Illumina
[~2,600,000] (imputed)
N
01/12/09 " Triglycerides 19,840 European ancestry individuals Up to 20,623 European ancestry individuals 2p24.1 APOB C2orf43 - APOB rs7557067-G 0.22 9 x 10-12 .08 [0.04-0.12] s.d. decrease 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 2p24.1 APOB APOB rs693-A cds-synon 0.41 3 x 10-11 .12 [0.09-0.16] mmol/l increase Illumina
[329,091]
N
01/12/09 " Metabolic traits 4,763 Northern Finnish founder individuals NA 2p24.1 APOB APOB rs673548-A intron 0.27 2 x 10-8 (TG) .08 [0.05-0.11] mmol/l decrease Illumina
[329,091]
N
11/25/08 Sandhu MS
February 09, 2008
Lancet
LDL-cholesterol concentrations: a genome-wide association study.
LDL cholesterol 11,685 European ancestry individuals Up to 4,979 European ancestry individuals 2p24.1 APOB APOB - TDRD15 rs562338-T 0.20 1 x 10-9 .04 [0.02-0.06] mmol/L decrease Affymetrix and Illumina
[up to 461,986]
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 2p24.1 APOB APOB rs693-A cds-synon 0.48 1 x 10-21 .12 [0.10-0.14] % SD higher Affymetrix
[389,878]
N
11/25/08 " Triglycerides 2,758 individuals 18,544 individuals 2p24.1 APOB APOB rs693-A cds-synon 0.48 2 x 10-7 .08 [0.04-0.12] % SD higher 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 2p24.1 APOB APOB - TDRD15 rs562338-G 0.82 6 x 10-22 4.89 [NR] mg/dl higher Illumina and Affymetrix
[~2,261,000] (imputed)
N
02/13/09 Saxena R
April 26, 2007
Science
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
Triglycerides Up to 5,217 European ancestry individuals NA 2p24.1 APOB APOB rs693-A cds-synon 0.49 7 x 10-7 (LDL) NR Affymetrix
[386,731]
N




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