PGS Publication: PGP000116

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.
Released in PGS Catalog: Dec. 8, 2020

Associated Polygenic Score(s)

External PGS Evaluated By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000013 GPS_CAD PGP000006 Khera AV et al. Nat Genet (2018) Coronary artery disease coronary artery disease 6,630,150 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000013/ScoringFiles/PGS000013.txt.gz - Check Terms/Licenses

PGS Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance Metric ID
(PPM ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001011 PGS000013 (GPS_CAD) PSS000515 PGP000116
Aragam KG et al. (2020)
Ext.
Reported Trait: Prevalent Coronary Artery Disease AUROC: 0.58 PCs (1-10) of ancestry
PPM001010 PGS000013 (GPS_CAD) PSS000517 PGP000116
Aragam KG et al. (2020)
Ext.
Reported Trait: Prevalent Coronary Artery Disease AUROC: 0.63 PCs (1-10) of ancestry
PPM001009 PGS000013 (GPS_CAD) PSS000516 PGP000116
Aragam KG et al. (2020)
Ext.
Reported Trait: Prevalent Coronary Artery Disease AUROC: 0.53 PCs (1-10) of ancestry
PPM001008 PGS000013 (GPS_CAD) PSS000515 PGP000116
Aragam KG et al. (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 PGP000116
Aragam KG et al. (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 PGP000116
Aragam KG et al. (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 PGP000116
Aragam KG et al. (2020)
Ext.
Reported Trait: Prevalent Coronary Artery Disease AUROC: 0.61 PCs (1-10) of ancestry
PPM001004 PGS000013 (GPS_CAD) PSS000519 PGP000116
Aragam KG et al. (2020)
Ext.
Reported Trait: Prevalent Coronary Artery Disease AUROC: 0.6 PCs (1-10) of ancestry
PPM001003 PGS000013 (GPS_CAD) PSS000518 PGP000116
Aragam KG et al. (2020)
Ext.
Reported Trait: Prevalent Coronary Artery Disease AUROC: 0.59 PCs (1-10) of ancestry
PPM001002 PGS000013 (GPS_CAD) PSS000514 PGP000116
Aragam KG et al. (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 PGP000116
Aragam KG et al. (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 PGP000116
Aragam KG et al. (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 PGP000116
Aragam KG et al. (2020)
Ext.
Reported Trait: Prevalent Coronary Artery Disease OR: 1.42 [1.38, 1.46] age, sex, PCs (1-10) of ancestry, genotyping array

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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)
[
  • 2,824 cases
  • , 21,547 controls
]
,
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 Mount Sinai
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 Mount Sinai
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 Mount Sinai
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 Mount Sinai
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)
[
  • 3,538 cases
  • , 10,129 controls
]
,
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)
[
  • 4,658 cases
  • , 4,412 controls
]
,
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)
[
  • 11,020 cases
  • , 36,088 controls
]
,
46.52 % Male samples
Mean = 59.6 years European, African unspecified, Hispanic or Latin America, East Asian, South Asian African unspecified=9773, East Asian=167, European=29212, Hispanic or Latin America=7847, South Asian=109 Mount Sinai, PHB, PMB