| Publication Information (EuropePMC) | |
| Title | Limitations of Contemporary Guidelines for Managing Patients at High Genetic Risk of Coronary Artery Disease. |
| PubMed ID | 32498804(Europe PMC) |
| doi | 10.1016/j.jacc.2020.04.027 |
| Publication Date | June 1, 2020 |
| Journal | J Am Coll Cardiol |
| Author(s) | Aragam KG, Dobbyn A, Judy R, Chaffin M, Chaudhary K, Hindy G, Cagan A, Finneran P, Weng LC, Loos RJF, Nadkarni G, Cho JH, Kember RL, Baras A, Reid J, Overton J, Philippakis A, Ellinor PT, Weiss ST, Rader DJ, Lubitz SA, Smoller JW, Karlson EW, Khera AV, Kathiresan S, Do R, Damrauer SM, Natarajan P. |
| 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) |
|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM001011 | PGS000013 (GPS_CAD) |
PSS000515| African Ancestry| 6,979 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | — | AUROC: 0.58 | — | PCs (1-10) of ancestry | — |
| PPM001010 | PGS000013 (GPS_CAD) |
PSS000517| Hispanic or Latin American Ancestry| 7,048 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | — | AUROC: 0.63 | — | PCs (1-10) of ancestry | — |
| PPM001009 | PGS000013 (GPS_CAD) |
PSS000516| European Ancestry| 10,344 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | — | AUROC: 0.53 | — | PCs (1-10) of ancestry | — |
| PPM001008 | PGS000013 (GPS_CAD) |
PSS000515| African Ancestry| 6,979 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | OR: 1.29 [1.23, 1.34] | — | — | age, sex, PCs (1-10) of ancestry | — |
| PPM001007 | PGS000013 (GPS_CAD) |
PSS000517| Hispanic or Latin American Ancestry| 7,048 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | OR: 1.5 [1.44, 1.57] | — | — | age, sex, PCs (1-10) of ancestry | — |
| PPM001006 | PGS000013 (GPS_CAD) |
PSS000516| European Ancestry| 10,344 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | OR: 1.52 [1.46, 1.58] | — | — | age, sex, PCs (1-10) of ancestry | — |
| PPM001005 | PGS000013 (GPS_CAD) |
PSS000514| Multi-ancestry (including European)| 24,371 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | — | AUROC: 0.61 | — | PCs (1-10) of ancestry | — |
| PPM001004 | PGS000013 (GPS_CAD) |
PSS000519| Multi-ancestry (including European)| 9,070 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | — | AUROC: 0.6 | — | PCs (1-10) of ancestry | — |
| PPM001003 | PGS000013 (GPS_CAD) |
PSS000518| Multi-ancestry (including European)| 13,667 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | — | AUROC: 0.59 | — | PCs (1-10) of ancestry | — |
| PPM001002 | PGS000013 (GPS_CAD) |
PSS000514| Multi-ancestry (including European)| 24,371 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | OR: 1.42 [1.35, 1.48] | — | — | age, sex, PCs (1-10) of ancestry | — |
| PPM001001 | PGS000013 (GPS_CAD) |
PSS000519| Multi-ancestry (including European)| 9,070 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | OR: 1.45 [1.38, 1.52] | — | — | age, sex, PCs (1-10) of ancestry, genotyping array | — |
| PPM001000 | PGS000013 (GPS_CAD) |
PSS000518| Multi-ancestry (including European)| 13,667 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | OR: 1.41 [1.34, 1.47] | — | — | age, sex, PCs (1-10) of ancestry, genotyping array | — |
| PPM000999 | PGS000013 (GPS_CAD) |
PSS000520| Multi-ancestry (including European)| 47,108 individuals |
PGP000116 | Aragam KG et al. J Am Coll Cardiol (2020) |Ext. |
Reported Trait: Prevalent Coronary Artery Disease | OR: 1.42 [1.38, 1.46] | — | — | age, sex, PCs (1-10) of ancestry, 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 |
|---|---|---|---|---|---|---|---|---|
| PSS000514 | ICD-9 diagnosis code for acute myocardial infarction, other acute/subacute forms of ischemic heart disease, old myocardial infarction, other forms of chronic ischemic heart disease, certain unspecified sequelae of myocardial infarction, coronary bypass, or coronary revascularization (36.1, 36.2, 410, 411, 412, 414, 429.7); ICD-10 diagnosis code for acute myocardial infarction, subsequent myocardial infarction, complications following myocardial infarction, other acute ischemic heart disease, or chronic ischemic heart disease (I21, I22, I23, I24, I25); CPT procedure code for coronary artery bypass, percutaneous transluminal angioplasty/revascularization/thrombectomy, or coronary thrombolysis (3351x, 3353x, 9292x, 9293x, 9294x, 9297x) | — | [ ,
42.7 % Male samples |
Mean = 57.0 years | European, Hispanic or Latin American, African unspecified | African unspecified=6979, European=10344, Hispanic or Latin American=7048 | BioMe | — |
| PSS000515 | ICD-9 diagnosis code for acute myocardial infarction, other acute/subacute forms of ischemic heart disease, old myocardial infarction, other forms of chronic ischemic heart disease, certain unspecified sequelae of myocardial infarction, coronary bypass, or coronary revascularization (36.1, 36.2, 410, 411, 412, 414, 429.7); ICD-10 diagnosis code for acute myocardial infarction, subsequent myocardial infarction, complications following myocardial infarction, other acute ischemic heart disease, or chronic ischemic heart disease (I21, I22, I23, I24, I25); CPT procedure code for coronary artery bypass, percutaneous transluminal angioplasty/revascularization/thrombectomy, or coronary thrombolysis (3351x, 3353x, 9292x, 9293x, 9294x, 9297x) | — | 6,979 individuals | — | African unspecified | — | BioMe | — |
| PSS000516 | ICD-9 diagnosis code for acute myocardial infarction, other acute/subacute forms of ischemic heart disease, old myocardial infarction, other forms of chronic ischemic heart disease, certain unspecified sequelae of myocardial infarction, coronary bypass, or coronary revascularization (36.1, 36.2, 410, 411, 412, 414, 429.7); ICD-10 diagnosis code for acute myocardial infarction, subsequent myocardial infarction, complications following myocardial infarction, other acute ischemic heart disease, or chronic ischemic heart disease (I21, I22, I23, I24, I25); CPT procedure code for coronary artery bypass, percutaneous transluminal angioplasty/revascularization/thrombectomy, or coronary thrombolysis (3351x, 3353x, 9292x, 9293x, 9294x, 9297x) | — | 10,344 individuals | — | European | — | BioMe | — |
| PSS000517 | ICD-9 diagnosis code for acute myocardial infarction, other acute/subacute forms of ischemic heart disease, old myocardial infarction, other forms of chronic ischemic heart disease, certain unspecified sequelae of myocardial infarction, coronary bypass, or coronary revascularization (36.1, 36.2, 410, 411, 412, 414, 429.7); ICD-10 diagnosis code for acute myocardial infarction, subsequent myocardial infarction, complications following myocardial infarction, other acute ischemic heart disease, or chronic ischemic heart disease (I21, I22, I23, I24, I25); CPT procedure code for coronary artery bypass, percutaneous transluminal angioplasty/revascularization/thrombectomy, or coronary thrombolysis (3351x, 3353x, 9292x, 9293x, 9294x, 9297x) | — | 7,048 individuals | — | Hispanic or Latin American | — | BioMe | — |
| PSS000518 | ICD-9 diagnosis code for acute myocardial infarction, other acute/subacute forms of ischemic heart disease, old myocardial infarction, other forms of chronic ischemic heart disease, certain unspecified sequelae of myocardial infarction, coronary bypass, or coronary revascularization (36.1, 36.2, 410, 411, 412, 414, 429.7); ICD-10 diagnosis code for acute myocardial infarction, subsequent myocardial infarction, complications following myocardial infarction, other acute ischemic heart disease, or chronic ischemic heart disease (I21, I22, I23, I24, I25); CPT procedure code for coronary artery bypass, percutaneous transluminal angioplasty/revascularization/thrombectomy, or coronary thrombolysis (3351x, 3353x, 9292x, 9293x, 9294x, 9297x) | — | [ ,
45.0 % Male samples |
Mean = 60.0 years | European, African unspecified, Hispanic or Latin American, East Asian, South Asian | African unspecified=867, East Asian=167, European=11725, Hispanic or Latin American=799, South Asian=109 | PHB | — |
| PSS000519 | ICD-9 diagnosis code for acute myocardial infarction, other acute/subacute forms of ischemic heart disease, old myocardial infarction, other forms of chronic ischemic heart disease, certain unspecified sequelae of myocardial infarction, coronary bypass, or coronary revascularization (36.1, 36.2, 410, 411, 412, 414, 429.7); ICD-10 diagnosis code for acute myocardial infarction, subsequent myocardial infarction, complications following myocardial infarction, other acute ischemic heart disease, or chronic ischemic heart disease (I21, I22, I23, I24, I25); CPT procedure code for coronary artery bypass, percutaneous transluminal angioplasty/revascularization/thrombectomy, or coronary thrombolysis (3351x, 3353x, 9292x, 9293x, 9294x, 9297x) | — | [ ,
59.0 % Male samples |
Mean = 68.0 years | European, African unspecified | African unspecified=1927, European=7143 | PMB | — |
| PSS000520 | ICD-9 diagnosis code for acute myocardial infarction, other acute/subacute forms of ischemic heart disease, old myocardial infarction, other forms of chronic ischemic heart disease, certain unspecified sequelae of myocardial infarction, coronary bypass, or coronary revascularization (36.1, 36.2, 410, 411, 412, 414, 429.7); ICD-10 diagnosis code for acute myocardial infarction, subsequent myocardial infarction, complications following myocardial infarction, other acute ischemic heart disease, or chronic ischemic heart disease (I21, I22, I23, I24, I25); CPT procedure code for coronary artery bypass, percutaneous transluminal angioplasty/revascularization/thrombectomy, or coronary thrombolysis (3351x, 3353x, 9292x, 9293x, 9294x, 9297x) | — | [ ,
46.52 % Male samples |
Mean = 59.6 years | European, African unspecified, Hispanic or Latin American, East Asian, South Asian | African unspecified=9773, East Asian=167, European=29212, Hispanic or Latin America=7847, South Asian=109 | BioMe, PHB, PMB | — |