| 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. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000019 (GRS_CAD) |
PGP000009 | Paquette M et al. J Clin Lipidol (2017) |
Coronary artery disease | coronary artery disease | 192 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000019/ScoringFiles/PGS000019.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM000038 | PGS000019 (GRS_CAD) |
PSS000023| European Ancestry| 725 individuals |
PGP000009 | Paquette M et al. J Clin Lipidol (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| European Ancestry| 725 individuals |
PGP000009 | Paquette M et al. J Clin Lipidol (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) |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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). | — | [ ,
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). | — | [ ,
42.8 % Male samples |
— | European | — | CNMA | Nutrition, Metabolism and Atherosclerosis Clinic (CNMA) of Institut de recherches cliniques de Montréal |