| Predicted Trait | |
| Reported Trait | Coronary artery disease |
| Mapped Trait(s) | coronary artery disease (EFO_0001645) |
| Score Construction | |
| PGS Name | GRS_CAD |
| Development Method | |
| Name | Genome-wide significant variants |
| Parameters | FDR < 5%, r2 < 0.20 |
| Variants | |
| Original Genome Build | NR |
| Number of Variants | 192 |
| Effect Weight Type | NR |
| 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 | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST003116 Europe PMC: 26343387 |
2,268 individuals | Greater Middle Eastern (Middle Eastern, North African or Persian) | 41 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 |
4,095 individuals | Hispanic or Latin American | 41 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 |
3,139 individuals | African American or Afro-Caribbean | 41 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 |
11,323 individuals | East Asian | 41 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 |
25,557 individuals | South Asian | 41 cohorts
|
GWAS Catalog: GCST003116 Europe PMC: 26343387 |
141,217 individuals | European | 41 cohorts
|
|
PGS Performance Metric ID (PPM) |
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 | 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 | 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 |