Publication Information (EuropePMC) | |
Title | Validation of Genome-Wide Polygenic Risk Scores for Coronary Artery Disease in French Canadians. |
PubMed ID | 31184202(Europe PMC) |
doi | 10.1161/CIRCGEN.119.002481 |
Publication Date | June 11, 2019 |
Journal | Circ Genom Precis Med |
Author(s) | Wünnemann F, Sin Lo K, Langford-Avelar A, Busseuil D, Dubé MP, Tardif JC, Lettre G. |
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 | |
PGS000013 (GPS_CAD) |
PGP000006 | Khera AV et al. Nat Genet (2018) |
Coronary artery disease | coronary artery disease | 6,630,150 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000013/ScoringFiles/PGS000013.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 |
---|---|---|---|---|---|---|---|---|---|
PPM000030 | PGS000013 (GPS_CAD) |
PSS000021| European Ancestry| 1,964 individuals |
PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. |
Reported Trait: Coronary artery disease (prevalent) | OR: 1.64 [1.48, 1.81] | AUROC: 0.72 [0.7, 0.74] | — | age, sex, first four genetic PCs | — |
PPM000031 | PGS000013 (GPS_CAD) |
PSS000022| European Ancestry| 3,309 individuals |
PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. |
Reported Trait: Coronary artery disease (prevalent) | OR: 1.55 [1.38, 1.73] | AUROC: 0.89 [0.88, 0.91] | — | age, sex, first four genetic PCs | — |
PPM000032 | PGS000013 (GPS_CAD) |
PSS000019| European Ancestry| 5,762 individuals |
PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. |
Reported Trait: Coronary artery disease (prevalent) | OR: 1.69 [1.44, 1.99] | AUROC: 0.84 [0.81, 0.87] | — | age, sex, first four genetic PCs, cohort recruitment centre | — |
PPM000033 | PGS000013 (GPS_CAD) |
PSS000020| European Ancestry| 3,195 individuals |
PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. |
Reported Trait: Reccurent coronary artery disease events | OR: 1.13 [1.06, 1.22] | — | — | age, sex, first four genetic PCs | — |
PPM000034 | PGS000018 (metaGRS_CAD) |
PSS000021| European Ancestry| 1,964 individuals |
PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. |
Reported Trait: Coronary artery disease (prevalent) | OR: 1.74 [1.57, 1.93] | AUROC: 0.72 [0.7, 0.75] | — | age, sex, first four genetic PCs | — |
PPM000035 | PGS000018 (metaGRS_CAD) |
PSS000022| European Ancestry| 3,309 individuals |
PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. |
Reported Trait: Coronary artery disease (prevalent) | OR: 1.6 [1.43, 1.8] | AUROC: 0.89 [0.88, 0.91] | — | age, sex, first four genetic PCs | — |
PPM000036 | PGS000018 (metaGRS_CAD) |
PSS000019| European Ancestry| 5,762 individuals |
PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. |
Reported Trait: Coronary artery disease (prevalent) | OR: 1.75 [1.49, 2.05] | AUROC: 0.84 [0.81, 0.87] | — | age, sex, first four genetic PCs, cohort recruitment centre | — |
PPM000037 | PGS000018 (metaGRS_CAD) |
PSS000020| European Ancestry| 3,195 individuals |
PGP000008 | Wünnemann F et al. Circ Genom Precis Med (2019) |Ext. |
Reported Trait: Reccurent coronary artery disease events | OR: 1.17 [1.08, 1.26] | — | — | age, sex, first four genetic PCs | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS000019 | Prevalent Coronary artery disease (CAD), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting). | — | [ ,
41.29 % Male samples |
— | European (French Canadian) |
— | CARTaGENE | — |
PSS000020 | Recurrent CAD event during the follow- up period (median follow-up time =3.9 years [range =1.1–7), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting). | — | [
|
— | European (French Canadian) |
— | MHI | Phase 1 |
PSS000020 | Recurrent CAD event during the follow- up period (median follow-up time =3.9 years [range =1.1–7), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting). | — | [
|
— | European (French Canadian) |
— | MHI | Phase 2 |
PSS000021 | Prevalent Coronary artery disease (CAD), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting). | — | [ ,
72.7 % Male samples |
— | European (French Canadian) |
— | MHI | Phase 1 |
PSS000022 | Prevalent Coronary artery disease (CAD), where CAD is defined as previous diagnosis of myocardial infarction or revascularization procedures (percutaneous coronary intervention or coronary artery bypass grafting). | — | [ ,
72.38 % Male samples |
— | European (French Canadian) |
— | MHI | Phase 2 |