CVDKP Downloads


Polygenic Scores

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.
Nature Communications volume 13, Article number: 3771 (2022).

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.

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) Inherited basis of visceral, abdominal subcutaneous and gluteofemoral fat depots.
Agrawal S, Wang M, et al.

Nature Communications volume 13, Article number: 3771 (2022).
Local adiposity traits Summary statistics | PRS files
(Dataset not yet integrated into CVDKP) 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

Summary statistics and README

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
(Dataset not yet integrated into CVDKP) 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. 2021, in press.
bioRxiv preprint
Multiple

Download gene-level association score files and README

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

Summary statistics (multi-ethnic) | README

Summary statistics (European only) | README

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

PubMed ID Title Download files README files
  ATAC-seq data from human adult left atrium/cardiomyocytes Download files README