Publication Information (EuropePMC) | |
Title | Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants. |
PubMed ID | 36474045(Europe PMC) |
doi | 10.1038/s41588-022-01233-6 |
Publication Date | Dec. 6, 2022 |
Journal | Nat Genet |
Author(s) | Aragam KG, Jiang T, Goel A, Kanoni S, Wolford BN, Atri DS, Weeks EM, Wang M, Hindy G, Zhou W, Grace C, Roselli C, Marston NA, Kamanu FK, Surakka I, Venegas LM, Sherliker P, Koyama S, Ishigaki K, Åsvold BO, Brown MR, Brumpton B, de Vries PS, Giannakopoulou O, Giardoglou P, Gudbjartsson DF, Güldener U, Haider SMI, Helgadottir A, Ibrahim M, Kastrati A, Kessler T, Kyriakou T, Konopka T, Li L, Ma L, Meitinger T, Mucha S, Munz M, Murgia F, Nielsen JB, Nöthen MM, Pang S, Reinberger T, Schnitzler G, Smedley D, Thorleifsson G, von Scheidt M, Ulirsch JC, Biobank Japan, EPIC-CVD, Arnar DO, Burtt NP, Costanzo MC, Flannick J, Ito K, Jang DK, Kamatani Y, Khera AV, Komuro I, Kullo IJ, Lotta LA, Nelson CP, Roberts R, Thorgeirsson G, Thorsteinsdottir U, Webb TR, Baras A, Björkegren JLM, Boerwinkle E, Dedoussis G, Holm H, Hveem K, Melander O, Morrison AC, Orho-Melander M, Rallidis LS, Ruusalepp A, Sabatine MS, Stefansson K, Zalloua P, Ellinor PT, Farrall M, Danesh J, Ruff CT, Finucane HK, Hopewell JC, Clarke R, Gupta RM, Erdmann J, Samani NJ, Schunkert H, Watkins H, Willer CJ, Deloukas P, Kathiresan S, Butterworth AS, CARDIoGRAMplusC4D Consortium. |
Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
---|---|---|---|---|---|---|
PGS003355 (1MH_CAD_PRS_2015_Ldpred) |
PGP000409 | Aragam KG et al. Nat Genet (2022) |
Coronary artery disease | coronary artery disease | 1,532,758 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003355/ScoringFiles/PGS003355.txt.gz |
PGS003356 (1MH_CAD_PRS_2022_Ldpred) |
PGP000409 | Aragam KG et al. Nat Genet (2022) |
Coronary artery disease | coronary artery disease | 2,324,683 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003356/ScoringFiles/PGS003356.txt.gz |
PGS Performance Metric ID (PPM) |
Evaluated Score |
PGS Sample Set ID (PSS) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
Classification Metrics | Other Metrics | Covariates Included in the Model |
PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|---|
PPM016211 | PGS003356 (1MH_CAD_PRS_2022_Ldpred) |
PSS010059| European Ancestry| 14,298 individuals |
PGP000409 | Aragam KG et al. Nat Genet (2022) |
Reported Trait: Recurrent coronary artery disease | HR: 1.2 [1.11, 1.29] | — | — | age, sex and ancestry (PCs 1-5) | — |
PPM016212 | PGS003355 (1MH_CAD_PRS_2015_Ldpred) |
PSS010059| European Ancestry| 14,298 individuals |
PGP000409 | Aragam KG et al. Nat Genet (2022) |
Reported Trait: Recurrent coronary artery disease | HR: 1.13 [1.04, 1.22] | — | — | age, sex and ancestry (PCs 1-5) | — |
PPM016208 | PGS003356 (1MH_CAD_PRS_2022_Ldpred) |
PSS010060| Ancestry Not Reported| 5,685 individuals |
PGP000409 | Aragam KG et al. Nat Genet (2022) |
Reported Trait: Incident coronary artery disease | HR: 1.61 [1.5, 1.72] | — | — | age, sex and ancestry (PCs 1-5) | — |
PPM016210 | PGS003355 (1MH_CAD_PRS_2015_Ldpred) |
PSS010060| Ancestry Not Reported| 5,685 individuals |
PGP000409 | Aragam KG et al. Nat Genet (2022) |
Reported Trait: Incident coronary artery disease | HR: 1.49 [1.39, 1.59] | — | — | age, sex and ancestry (PCs 1-5) | — |
PPM016209 | PGS003356 (1MH_CAD_PRS_2022_Ldpred) |
PSS010060| Ancestry Not Reported| 5,685 individuals |
PGP000409 | Aragam KG et al. Nat Genet (2022) |
Reported Trait: Incident coronary artery disease | HR: 1.54 | — | — | age, sex and ancestry (PCs 1–5), established risk factors for CAD (total cholesterol, HDL cholesterol, systolic blood pressure, body mass index, type 2 diabetes, current smoking status and family history of CAD) | — |
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
---|---|---|---|---|---|---|---|---|
PSS010060 | — | [ ,
41.0 % Male samples |
— | Not reported | — | MDC | — | |
PSS010059 | — | Median = 2.3 years | [
|
— | European | — | FOURIER | — |