CVDKP Downloads


Polygenic Scores

Download polygenic risk score files for epicardial and pericardial adipose tissue (EPAT) area, as described in this study:

Cardiovascular Significance and Genetics of Epicardial and Pericardial Adiposity.
Rämö JT, et al.
JAMA Cardiol. 2024 Mar 13:e240080. doi: 10.1001/jamacardio.2024.0080.
PMID: 38477908

PGS weights | PGS README | GWAS summary statistics | GWAS README


Download polygenic risk score files for atrial fibrillation and stroke, as described in this study:

Clinical and Genetic Atrial Fibrillation Risk and Discrimination of Cardioembolic From Noncardioembolic Stroke.
Weng L-C, et al.
Stroke. 2023 Jul;54(7):1777-1785. doi: 10.1161/STROKEAHA.122.041533.
PMID: 37363945

PRS files


Download polygenic risk score files and accompanying data for atrial fibrillation risk, as described in this study:

Genetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.
Wang X, et al.

Circ Genom Precis Med. 2023 Jun 6;e003808. doi: 10.1161/CIRCGEN.122.003808.
PMID: 37278238

PRS weights of ECG-AI GWAS   |   PRS weights of CHARGE-AF GWAS    |   ECG-AI GWAS summary statistics


Download polygenic risk score files and accompanying data for coronary artery disease, as described in this study:

A multi-ancestry polygenic risk score improves risk prediction for coronary artery disease.
Patel AP, Wang M, et al.
Nat Med. 2023 Jul 6. doi: 10.1038/s41591-023-02429-x.
PMID: 37414900

PRS files   |   README


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 CVDKPPublicationPhenotypesDownload
(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. 2024. Accepted for publication.
 
Atrial fibrillationSingle variant summary statistics | Gene-based summary statistics (rare LoF and predicted deleterious missense variants) | Gene-based summary statistics (rare structural variants with predicted class 4 or 5 impact) | README
(Dataset not yet integrated into CVDKP)Cardiovascular Significance and Genetics of Epicardial and Pericardial Adiposity.
Rämö JT, et al.
JAMA Cardiol. 2024 Mar 13:e240080. doi: 10.1001/jamacardio.2024.0080.
PMID: 38477908
Epicardial and pericardial adipose tissue areaGWAS summary statistics | GWAS README | PGS weights | PGS README
(Dataset not yet integrated into CVDKP)Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification.
Kavousi M, et al.

Nat Genet (2023). https://doi.org/10.1038/s41588-023-01518-4
 
Coronary artery calcificationTrans-ancestry summary statistics | Trans-ancestry credible sets | Trans-ancestry README | European ancestry summary statistics | European ancestry credible sets | European ancestry README
ECG-AI model predicted atrial fibrillation 2023 GWAS: European ancestryGenetic Susceptibility to Atrial Fibrillation Identified via Deep Learning of 12-Lead Electrocardiograms.
Wang X, et al.

Circ Genom Precis Med. 2023 Jun 6;e003808. doi: 10.1161/CIRCGEN.122.003808.
PMID: 37278238
ECG-AI-predicted atrial fibrillation riskECG-AI GWAS summary statistics    |   PRS weights of ECG-AI GWAS   |   PRS weights of CHARGE-AF GWAS
Left ventricular mass 2023 GWAS: trans-ancestryClinical 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 massIndexed left ventricular mass | Unindexed left ventricular mass
Native myocardial T1 time 2023 GWAS: European ancestryGenetics 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 fibrosisSummary statistics | README
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 diseaseSummary statistics   |   GWAS README
Credible sets
PRS files   |   PRS file README
Quantitative traits 2022 GWAS: European ancestryAdjusting 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 traitsGWAS 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

Download files

README

Triglyceride levels in T2D 2022 GWAS: European ancestry; Triglyceride levels in non-T2D 2022 GWAS: European ancestryGenome-wide discovery for diabetes-dependent triglycerides-associated loci.
Selvaraj MS, et al.
PMID: 36269708
Lipids in T2DTG levels in T2D
TG levels in non-T2D
Fat distribution 2022 GWASInherited 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 traitsSummary statistics | PRS files
Corrected QT interval 2022 GWAS: European ancestryMonogenic 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 traitsSummary statistics and README
Mitral valve prolapse 2022 GWAS: European ancestryGenome-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 prolapseSummary statistics   |    README   |    Supplementary tables from the publication
Right heart 2022 GWAS: European ancestryGenetic 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 functionSummary statistics (18 GB)
Plasma lipids 2022 exome sequence analysisRare 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.
PMID: 34932938
LipidsSingle 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
MultipleDownload gene-level association score files and README
TOPMed 2021 ECG traits whole genome sequence analysis: mixed ancestryRare 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 traitsSummary statistics | README
Thoracic aorta dimensions GWASDeep 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 diameterSummary 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) concentrationSummary statistics | README | Polygenic score for lipoprotein(a)
Cirrhosis GWASAssociation 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
HepaticSummary statistics
P-wave duration exome chip analysisGenetic 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 durationSummary statistics and README
PR interval 1000G GWASMulti-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 traitsSummary statistics - all | README
Summary statistics - Europeans | README
UK Biobank Cardiac MRI LV GWASAnalysis 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
CardiovascularSummary 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 analysisMonogenic 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 fibrillationGene-level association scores | README
HERMES Heart Failure GWASGenome-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 failureSummary statistics | README
Early-onset AF TOPMed WGSAssociation 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 fibrillationSummary statistics | README
UK Biobank Heart Failure GWASPhenotypic 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
CardiovascularSummary statistics | README
Albuminuria GWASGenetic 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
RenalSummary statistics | README
2018 AF HRC GWASMulti-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 traitsSummary 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 traitsSummary 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 fibrillationSummary statistics | README

 

Other data downloads

Data typeReferenceDownload
Histone modifications, CTCF binding, and gene expression in left atrial tissueEpigenetic Analyses of Human Left Atrial Tissue Identifies Gene Networks Underlying Atrial Fibrillation.
Hall AW, et al.
Circ Genom Precis Med. 2020 Dec;13(6):e003085. doi: 10.1161/CIRCGEN.120.003085.
PMID: 33155827
Data files from this publication are accessible via the Common Metabolic Diseases Genome Atlas.
 
GWAS summary statistics, PGS weights, rare variant analysis summary statisticsAdjusting 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 sizesEndophenotype 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 statisticsClonal 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