Predicted Trait | |
Reported Trait | Coronary artery disease |
Mapped Trait(s) | coronary artery disease (EFO_0001645) |
Score Construction | |
PGS Name | GRS_CAD |
Variants | |
Original Genome Build | NR |
Number of Variants | 192 |
Development Method | |
Name | Genome-wide significant associations |
Parameters | FDR < 5%, r2 < 0.20 |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000009 |
Citation (link to publication) | Paquette M et al. J Clin Lipidol (2017) |
Study Identifiers | Sample Numbers | Sample Ancestry |
---|---|---|
GWAS Catalog: GCST003116 EuropePMC: 26343387 |
11,323 individuals | East Asian |
GWAS Catalog: GCST003116 EuropePMC: 26343387 |
25,557 individuals | South Asian |
GWAS Catalog: GCST003116 EuropePMC: 26343387 |
2,268 individuals | Greater Middle Eastern (Middle Eastern, North African or Persian) |
GWAS Catalog: GCST003116 EuropePMC: 26343387 |
4,095 individuals | Hispanic or Latin American |
GWAS Catalog: GCST003116 EuropePMC: 26343387 |
141,217 individuals | European |
GWAS Catalog: GCST003116 EuropePMC: 26343387 |
3,139 individuals | African American or Afro-Caribbean |
PGS Performance Metric ID (PPM ID) |
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 | 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 | 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) |
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). | — | [ ,
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 |