| Publication Information (EuropePMC) | |
| Title | Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention. |
| PubMed ID | 30309464(Europe PMC) |
| doi | 10.1016/j.jacc.2018.07.079 |
| Publication Date | Oct. 1, 2018 |
| Journal | J Am Coll Cardiol |
| Author(s) | Inouye M, Abraham G, Nelson CP, Wood AM, Sweeting MJ, Dudbridge F, Lai FY, Kaptoge S, Brozynska M, Wang T, Ye S, Webb TR, Rutter MK, Tzoulaki I, Patel RS, Loos RJF, Keavney B, Hemingway H, Thompson J, Watkins H, Deloukas P, Di Angelantonio E, Butterworth AS, Danesh J, Samani NJ, UK Biobank CardioMetabolic Consortium CHD Working Group. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000018 (metaGRS_CAD) |
PGP000007 | Inouye M et al. J Am Coll Cardiol (2018) |
Coronary artery disease | coronary artery disease | 1,745,179 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000018/ScoringFiles/PGS000018.txt.gz |
| 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) |
|---|---|---|---|---|---|---|
| PGS000011 (GRS50) |
PGP000004 | Tada H et al. Eur Heart J (2015) |
Coronary artery disease | coronary artery disease | 50 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000011/ScoringFiles/PGS000011.txt.gz |
| PGS000012 (GRS49K) |
PGP000005 | Abraham G et al. Eur Heart J (2016) |
Coronary artery disease | coronary artery disease | 49,310 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000012/ScoringFiles/PGS000012.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM000027 | PGS000018 (metaGRS_CAD) |
PSS000018| Multi-ancestry (including European)| 482,629 individuals |
PGP000007 | Inouye M et al. J Am Coll Cardiol (2018) |
Reported Trait: Incident coronary artery disease | HR: 1.706 [1.682, 1.73] | AUROC: 0.79 C-index: 0.623 [0.615, 0.631] |
AUPRC: 0.161 | sex, genetic PCs (1-10), genotyping array | age-as-time-scale Cox regression |
| PPM000028 | PGS000012 (GRS49K) |
PSS000018| Multi-ancestry (including European)| 482,629 individuals |
PGP000007 | Inouye M et al. J Am Coll Cardiol (2018) |Ext. |
Reported Trait: Incident coronary artery disease | HR: 1.524 [1.498, 1.551] | — | — | sex, genetic PCs (1-10), genotyping array | Used GRS46K (excludes A/T and C/G SNPs, with performance similar to GRS49K) |
| PPM000029 | PGS000011 (GRS50) |
PSS000018| Multi-ancestry (including European)| 482,629 individuals |
PGP000007 | Inouye M et al. J Am Coll Cardiol (2018) |Ext. |
Reported Trait: Incident coronary artery disease | HR: 1.263 [1.247, 1.28] | — | — | sex, genetic PCs (1-10), genotyping array | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS000018 | CAD was defined as fatal or nonfatal myocardial infarction (MI) cases, percutaneous transluminal coronary angioplasty (PTCA), or coronary artery bypass grafting (CABG). Prevalent versus incident status was relative to the UKB enrollment assessment. In UKB self-reported data, cases were defined as having had a heart attack diagnosed by a doctor (data field #6150); “non-cancer illnesses that self-reported as heart attack” (data field #20002); or self-reported operation including PTCA, CABG, or triple heart bypass (data field #20004). In HES hospital episodes data and death registry data, MI was defined as hospital admission or cause of death due to ICD-9 410 to 412, or ICD-10 I21 to I24 or I25.2; CABG and PTCA were defined as hospital admission OPCS-4 K40 to K46, K49, K50.1,or K75. | — | [ ,
45.6 % Male samples |
— | European, NR | ~95% European ancestry samples, <5% non-European ancestry | UKB | — |