PGS Publication: PGP000008

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.
Released in PGS: Oct. 14, 2019

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)
PGS000018 metaGRS_CAD PGP000007
Inouye M et al. J Am Coll Cardiol (2018)
Coronary artery disease coronary artery disease 1,745,179 http://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 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000013/ScoringFiles/PGS000013.txt.gz

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
PPM000033 PGS000013 (GPS_CAD) PSS000020 PGP000008
Wünnemann F et al. (2019)
Ext.
Reported Trait: Reccurent coronary artery disease events OR: 1.13[1.06, 1.22] age, sex, first four genetic PCs
PPM000032 PGS000013 (GPS_CAD) PSS000019 PGP000008
Wünnemann F et al. (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
PPM000031 PGS000013 (GPS_CAD) PSS000022 PGP000008
Wünnemann F et al. (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
PPM000030 PGS000013 (GPS_CAD) PSS000021 PGP000008
Wünnemann F et al. (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
PPM000037 PGS000018 (metaGRS_CAD) PSS000020 PGP000008
Wünnemann F et al. (2019)
Ext.
Reported Trait: Reccurent coronary artery disease events OR: 1.17[1.08, 1.26] age, sex, first four genetic PCs
PPM000036 PGS000018 (metaGRS_CAD) PSS000019 PGP000008
Wünnemann F et al. (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
PPM000035 PGS000018 (metaGRS_CAD) PSS000022 PGP000008
Wünnemann F et al. (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
PPM000034 PGS000018 (metaGRS_CAD) PSS000021 PGP000008
Wünnemann F et al. (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

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
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).
[
  • 173 cases
  • , 5,589 controls
]
,
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).
[
  • 446 cases
  • , 416 controls
]
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).
[
  • 937 cases
  • , 1,396 controls
]
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).
[
  • 974 cases
  • , 976 controls
]
,
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).
[
  • 2,492 cases
  • , 817 controls
]
,
72.38 % Male samples
European
(French Canadian)
MHI Phase 2