PGS Publication: PGP000009

Publication Information (EuropePMC)
Title Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia.
PubMed ID 28456682(Europe PMC)
doi 10.1016/j.jacl.2017.03.019
Publication Date April 6, 2017
Journal J Clin Lipidol
Author(s) Paquette M, Chong M, Thériault S, Dufour R, Paré G, Baass A.
Released in PGS: Oct. 14, 2019

Associated Polygenic Score(s)

PGS Developed 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)
PGS000019 GRS_CAD PGP000009
Paquette M et al. J Clin Lipidol (2017)
Coronary artery disease coronary artery disease 192 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000019/ScoringFiles/PGS000019.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
PPM000038 PGS000019 (GRS_CAD) PSS000023 PGP000009
Paquette M et al. (2017)
Reported Trait: Coronary artery disease in familial hypercholesterolemia patients OR: 1.66[1.06, 2.62] age, gender, prior statin use, smoking, diabetes, hypertension, BMI, LDL-C, HDL-C, TGs, Lp(a), and type of LDLR mutation Performance metrics are from Model 2 (adjusted for cardiovascular risk factors)
PPM000039 PGS000019 (GRS_CAD) PSS000024 PGP000009
Paquette M et al. (2017)
Reported Trait: Coronary artery disease in familial hypercholesterolemia patients OR: 1.8[1.14, 2.85] age, gender, prior statin use, smoking, diabetes, hypertension, BMI, LDL-C, HDL-C, TGs, Lp(a), and type of LDLR mutation Performance metrics are from Model 2 (adjusted for cardiovascular risk factors)

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
PSS000023 CAD case endpoints were defined as: angina, myocardial infarction, coronary angioplasty, and coronary bypass surgery. Participants are described as Caucasian with diagnosed Familial hypercholesterolemia(FH; Dutch Lipid Criteria score >= 3 [possible, probable, or definite FH]) and carriers of classical French Canadian mutations in the LDLR gene including del .15 kb of the promoter and exon 1, del .5 kb of exons 2 and 3, W66G (exon 3), E207K (exon 4), Y468X (exon 10), and C646Y (exon 14).
[
  • 206 cases
  • , 519 controls
]
,
42.8 % Male samples
European CNMA Nutrition, Metabolism and Atherosclerosis Clinic (CNMA) of Institut de recherches cliniques de Montréal
PSS000024 Cerebrovascular disease (CVD) case endpoints were defined as: transient ischemic attack, stroke, and carotid endarterectomy. Participants are described as Caucasian with diagnosed Familial hypercholesterolemia(FH; Dutch Lipid Criteria score >= 3 [possible, probable, or definite FH]) and carriers of classical French Canadian mutations in the LDLR gene including del .15 kb of the promoter and exon 1, del .5 kb of exons 2 and 3, W66G (exon 3), E207K (exon 4), Y468X (exon 10), and C646Y (exon 14).
[
  • 231 cases
  • , 494 controls
]
,
42.8 % Male samples
European CNMA Nutrition, Metabolism and Atherosclerosis Clinic (CNMA) of Institut de recherches cliniques de Montréal