Polygenic Scores
Download polygenic risk score files and accompanying data for coronary artery disease, as described in this study:
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.
Aragam K, Jiang T, Goel A, Kanoni S, Wolford BN, Atri DS, et al.
Nat Genet. 2022 Dec;54(12):1803-1815. doi: 10.1038/s41588-022-01233-6.
PMID: 36474045
PRS files | PRS file README | Accompanying GWAS summary statistics | GWAS README | Accompanying credible sets
Download polygenic risk score files and accompanying data for 65 quantitative traits, as described in this study:
Adjusting for Common Variant Polygenic Scores Improves Yield in Rare Variant Association Analyses.
Jurgens SJ, Pirrucello JP, et al.
Nat Genet. 2023 Apr;55(4):544-548. doi: 10.1038/s41588-023-01342-w.
PMID: 36959364
GWAS summary statistics (102 GB) | PGS weights | Rare variant analysis summary statistics
Download polygenic risk score files for local adiposity traits, as described in this study:
Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.
Agrawal S, Wang M, et al.
Nat Commun. 2022 Jun 30;13(1):3771. doi: 10.1038/s41467-022-30931-2.
PMID: 35773277
PRS files and README | GWAS summary statistics
Download a polygenic risk score file for duration of the electrocardiographic QT interval, as described in this study:
Monogenic and Polygenic Contributions to QTc Prolongation in the Population.
Nauffal V, et al.
Circulation. 2022 Apr 7. doi: 10.1161/CIRCULATIONAHA.121.057261.
PRS for QTc and README | GWAS summary statistics for QTc and README
Download a polygenic score file and the accompanying GWAS summary statistics for mitral valve prolapse, as described in this study:
Genome-wide Association Study reveals Novel Genetic Loci: a new Polygenic Risk Score for Mitral Valve Prolapse.
Roselli C, et al.
European Heart Journal, ehac049, https://doi.org/10.1093/eurheartj/ehac049.
Supplementary tables from the publication
PRS for mitral valve prolapse | README for PRS weights | GWAS summary statistics | README for summary statistics
Download a polygenic score file and the accompanying GWAS summary statistics for circulating lipoprotein(a) concentrations, as described in this study:
Genetic Predictor to Identify Individuals With High Lipoprotein(a) Concentrations.
Dron JS, Wang M, et al.
Circ Genom Precis Med. 2021 Feb;14(1):e003182. doi: 10.1161/CIRCGEN.120.003182.
Polygenic score for lipoprotein(a) (612 KB) | Lp(a) GWAS summary statistics | README for summary statistics
Download a file containing 6,630,150 variants and associated weights for the polygenic score validated in South Asian populations, as described in this study:
Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians
Wang M, et al.
J. Amer. Coll. Cardiol. 2020 76(6). doi: 10.1016/j.jacc.2020.06.024
Coronary artery disease risk (55 GB)
Genome-wide polygenic scores are made freely available to the academic community for research use. Parties interested in using the scores for commercial purposes should contact the Broad Office of Strategic Alliances and Partnering or send an e-mail to: partnering@broadinstitute.org.
Download a list of variants and weights comprising a genome-wide polygenic score for body mass index and obesity, as described in:
Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.
Khera AV, Chaffin M, et al.
Cell. 2019 Apr 18;177(3):587-596.e9. doi: 10.1016/j.cell.2019.03.028
Body mass index and obesity (89 MB)
Genome-wide polygenic scores are made freely available to the academic community for research use. Parties interested in using the scores for commercial purposes should contact the Broad Office of Strategic Alliances and Partnering or send an e-mail to: partnering@broadinstitute.org.
Download lists of variants and weights comprising genome-wide polygenic scores for five complex diseases, as described in:
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Khera AV, Chaffin M, et al.
Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z
Atrial fibrillation (297.3 MB) | Breast cancer (253 KB) | Coronary artery disease (292.9 MB) | Inflammatory bowel disease (305.1 MB) | Type 2 diabetes (305.6 MB)
Genome-wide polygenic scores are made freely available to the academic community for research use. Parties interested in using the scores for commercial purposes should contact the Broad Office of Strategic Alliances and Partnering or send an e-mail to: partnering@broadinstitute.org.
Download a list of SNPs (.txt file) comprising the polygenic risk score for lifetime risk of atrial fibrillation, as developed in this study:
Genetic Predisposition, Clinical Risk Factor Burden, and Lifetime Risk of Atrial Fibrillation
Weng LC, et al. Circulation. 2017 Nov 12. pii: CIRCULATIONAHA.117.031431. doi: 10.1161/CIRCULATIONAHA.117.031431
GWAS Summary Statistic Downloads
| Dataset name in CVDKP | Publication | Phenotypes | Download |
|---|---|---|---|
| (Dataset not yet integrated into CVDKP) | Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass. Khurshid S, et al. Nat Commun. 2023 Mar 21;14(1):1558. doi: 10.1038/s41467-023-37173-w. PMID: 36944631 |
Left ventricular mass | Indexed left ventricular mass | Unindexed left ventricular mass |
| Native myocardial T1 time 2023 GWAS: European ancestry | Genetics of Myocardial Interstitial Fibrosis in the Human Heart and Association with Disease. Nauffal V, Di Achille P, Klarqvist MDR, Cunningham JW, Hill MC, et al. Nat Genet. 2023 Apr 20. doi: 10.1038/s41588-023-01371-5. PMID: 37081215 |
Myocardial interstitial fibrosis | Summary statistics | README |
| (Dataset not yet integrated into CVDKP) | Sequencing in over 50,000 cases identifies coding and structural variants underlying atrial fibrillation risk. Choi SH, Jurgens SJ, et al. Nat Genet. 2023. Accepted for publication. |
Atrial fibrillation |
Single variant summary statistics |
| CARDIoGRAMplusC4D 2022 CAD GWAS: trans-ancestry (and female, male, and European subsets) | Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. Aragam K, Jiang T, Goel A, Kanoni S, Wolford BN, Atri DS, et al. Nat Genet. 2022 Dec;54(12):1803-1815. doi: 10.1038/s41588-022-01233-6. PMID: 36474045 |
Coronary artery disease | Summary statistics | GWAS README Credible sets PRS files | PRS file README |
| Quantitative traits 2022 GWAS: European ancestry | Adjusting for Common Variant Polygenic Scores Improves Yield in Rare Variant Association Analyses. Jurgens SJ, Pirrucello JP, et al. Nat Genet. 2023 Apr;55(4):544-548. doi: 10.1038/s41588-023-01342-w. PMID: 36959364 |
65 quantitative traits | GWAS summary statistics (102 GB) PGS weights Rare variant analysis summary statistics |
| (Dataset not incorporated into the CVDKP) | Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations. Sandholm N, Hotakainen R, et al. Genome Med. 2022 Nov 23;14(1):132. doi: 10.1186/s13073-022-01135-6. PMID: 36419110 |
Plasma lipids in T1D | |
| Triglyceride levels in T2D 2022 GWAS: European ancestry; Triglyceride levels in non-T2D 2022 GWAS: European ancestry | Genome-wide discovery for diabetes-dependent triglycerides-associated loci. Selvaraj MS, et al. PMID: 36269708 |
Lipids in T2D | |
| Fat distribution 2022 GWAS | Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots. Agrawal S, Wang M, et al. Nat Commun. 2022 Jun 30;13(1):3771. doi: 10.1038/s41467-022-30931-2. PMID: 35773277 |
Local adiposity traits | Summary statistics | PRS files |
| Corrected QT interval 2022 GWAS: European ancestry | Monogenic and Polygenic Contributions to QTc Prolongation in the Population. Nauffal V, et al. Circulation. 2022 Apr 7. doi: 10.1161/CIRCULATIONAHA.121.057261. PMID:35389749 |
ECG traits | |
| Mitral valve prolapse 2022 GWAS: European ancestry | Genome-wide Association Study reveals Novel Genetic Loci: a new Polygenic Risk Score for Mitral Valve Prolapse. Roselli C, et al. European Heart Journal, ehac049, doi.org/10.1093/eurheartj/ehac049 |
Mitral valve prolapse | Summary statistics | README | Supplementary tables from the publication |
| Right heart 2022 GWAS: European ancestry | Genetic Analysis of Right Heart Structure and Function in 40,000 People. Pirruccello JP, et al. Nat Genet. 2022 Jun;54(6):792-803. doi: 10.1038/s41588-022-01090-3. PMID: 35697867 |
Heart structure and function | Summary statistics (18 GB) |
| Plasma lipids 2022 exome sequence analysis | Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes. Hindy G, et al. Am J Human Genet. 2022 Jan 6;109(1):81-96. doi: 10.1016/j.ajhg.2021.11.021.. |
Lipids | Single variant meta-analysis summary statistics Gene-based results |
| (Dataset not integrated into CVDKP) | Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. Jurgens SJ, Choi SH, Morrill VN, et al. Nat Genet. 2022 Mar;54(3):240-250. doi: 10.1038/s41588-021-01011-w. PMID: 35177841 |
Multiple | |
| TOPMed 2021 ECG traits whole genome sequence analysis: mixed ancestry | Rare Coding Variants Associated with Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: a Multi-ancestry Analysis. Choi SH, Jurgens SJ, et al. Circ Genom Precis Med. 2021 Jul;28(1):e003300. doi: 10.1161/CIRCGEN.120.003300. PMID:34319147 |
ECG traits | Summary statistics | README |
| Thoracic aorta dimensions GWAS | Deep learning enables genetic analysis of the human thoracic aorta. Pirruccello JP, et al. Nat Genet. 2021 Nov 26. doi: 10.1038/s41588-021-00962-4. PMID:34837083 |
Aortic diameter | Summary statistics - ascending aorta diameter | Summary statistics - descending aorta diameter | README |
| (Dataset not yet integrated into CVDKP) | Genetic Predictor to Identify Individuals With High Lipoprotein(a) Concentrations. Dron JS, Wang M, et al. Circ Genom Precis Med. 2021 Feb;14(1):e003182. doi: 10.1161/CIRCGEN.120.003182 PMID:33522245 |
Circulating Lp(a) concentration | Summary statistics | README | Polygenic score for lipoprotein(a) |
| Cirrhosis GWAS | Association of Genetic Variation With Cirrhosis: A Multi-Trait Genome-Wide Association and Gene-Environment Interaction Study. Emdin CA, et al. Gastroenterology. 2020 Dec 11;S0016-5085(20)35545-1. doi: 10.1053/j.gastro.2020.12.011. PMID:33310085 |
Hepatic | Summary statistics |
| P-wave duration exome chip analysis | Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation. Weng L-C, Hall AW, et al. Circ Genom Precis Med. 2020 Oct;13(5):387-395. doi: 10.1161/CIRCGEN.119.002874. PMID:32822252 |
P-wave duration | Summary statistics and README |
| PR interval 1000G GWAS | Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction. Ntalla I, Weng L-C, et al. Nat Commun. 2020 May 21;11(1):2542. doi: 10.1038/s41467-020-15706-x. PMID:32439900 |
ECG traits | Summary statistics - all | README Summary statistics - Europeans | README |
| UK Biobank Cardiac MRI LV GWAS | Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Pirruccello J, et al. Nat Commun. 2020 May 7;11(1):2254. doi: 10.1038/s41467-020-15823-7. PMID:32382064 |
Cardiovascular | Summary statistics for: Left ventricular end-diastolic volume | Left ventricular end-diastolic volume (BSA-indexed) | Left ventricular ejection fraction | Left ventricular end-systolic volume | Left ventricular end-systolic volume (BSA-indexed) | Stroke volume | Stroke volume (BSA-indexed) | README |
| UK Biobank atrial fibrillation exome sequence analysis | Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results From a National Biobank. Choi SH, Jurgens SJ, et al. Circ Res, 126 (2), 200-209 2020 Jan 17. doi: 10.1161/CIRCRESAHA.119.315686. PMID:31691645 |
Atrial fibrillation | Gene-level association scores | README |
| HERMES Heart Failure GWAS | Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure. Shah S, Henry A, et al. Nat Commun. 2020 Jan 9;11(1):163. doi: 10.1038/s41467-019-13690-5. PMID:31919418 |
Heart failure | Summary statistics | README |
| Early-onset AF TOPMed WGS | Association between titin loss-of-function variants and early-onset atrial fibrillation. Choi SH, et al. JAMA. 2018 Dec 11;320(22):2354-2364. doi:10.1001/jama.2018.18179. PMID:30535219 |
Atrial fibrillation | Summary statistics | README |
| UK Biobank Heart Failure GWAS | Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery. Aragam KG, et al. Circulation. 2018 Nov 11. doi: 10.1161/CIRCULATIONAHA.118.035774. PMID:30586722 |
Cardiovascular | Summary statistics | README |
| Albuminuria GWAS | Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. Haas ME, et al. Am J Hum Genet. 2018 Oct 4;103(4):461-473. doi: 10.1016/j.ajhg.2018.08.004. PMID:30220432 |
Renal | Summary statistics | README |
| 2018 AF HRC GWAS | Multi-ethnic genome-wide association study for atrial fibrillation. Roselli C, et al. Nat Genet. 2018 Sep;50(9):1225-1233. doi: 10.1038/s41588-018-0133-9. PMID:29892015 |
Atrial fibrillation | |
| PR interval exome chip analysis |
Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval. Lin H, et al. Circ Genom Precis Med. 2018 May;11(5):e002037. doi: 10.1161/CIRCGEN.117.002037. PMID:29748316 |
ECG traits | Summary statistics | README |
| PWI GWAS |
Fifteen Genetic Loci Associated With the Electrocardiographic P Wave. Christophersen IE, et al. Circ Cardiovasc Genet. 2017 Aug;10(4). pii: e001667. doi: 10.1161/CIRCGENETICS.116.001667. PMID:28794112 |
ECG traits | Summary statistics | README |
| 2017 AFGen GWAS (subset of 2018 AF HRC GWAS) | Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Christophersen IE, et al. Nat Genet. 2017 Jun;49(6):946-952. doi: 10.1038/ng.3843. PMID:28416818 |
Atrial fibrillation | Summary statistics | README |
Other data downloads
| Data type | Reference | Download |
|---|---|---|
| Gene-based summary statistics, single-variant summary statistics | Sequencing in over 50,000 cases identifies coding and structural variants underlying atrial fibrillation risk. Choi SH, Jurgens SJ, et al. Nat Genet. 2023. Accepted for publication. |
Single variant summary statistics |
| GWAS summary statistics, PGS weights, rare variant analysis summary statistics | Adjusting for Common Variant Polygenic Scores Improves Yield in Rare Variant Association Analyses. Jurgens SJ, Pirrucello JP, et al. Nat Genet. 2023 Apr;55(4):544-548. doi: 10.1038/s41588-023-01342-w. PMID: 36959364 |
GWAS summary statistics (102 GB) PGS weights Rare variant analysis summary statistics |
| Rare variants with large endophenotype-derived effect sizes | Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Halford JL, Morrill VN, et al. Nat Commun 13, Article number: 5106 (2022) doi: 10.1038/s41467-022-32009-5. |
Download table of rare variants | README View these results in an interactive table |
| Epigenome-wide association study summary statistics | Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery disease. Uddin MM, et al. Nat Commun. 2022 Sep 12;13(1):5350. doi: 10.1038/s41467-022-33093-3. PMID: 36097025 |
Summary statistics |
| ATAC-seq | ATAC-seq data from human adult left atrium/cardiomyocytes | Download | README |