| Publication Information (EuropePMC) | |
| Title | Clinical Application of a Novel Genetic Risk Score for Ischemic Stroke in Patients with Cardiometabolic Disease. |
| PubMed ID | 33185476(Europe PMC) |
| doi | 10.1161/circulationaha.120.051927 |
| Publication Date | Nov. 13, 2020 |
| Journal | Circulation |
| Author(s) | Marston NA, Patel PN, Kamanu FK, Nordio F, Melloni GM, Roselli C, Gurmu Y, Weng LC, Bonaca MP, Giugliano RP, Scirica BM, O'Donoghue ML, Cannon CP, Anderson CD, Bhatt DL, Steg PG, Cohen M, Storey RF, Sever P, Keech AC, Raz I, Mosenzon O, Antman EM, Braunwald E, Ellinor PT, Lubitz SA, Sabatine MS, Ruff CT. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000665 (GRS_32) |
PGP000125 | Marston NA et al. Circulation (2020) |
Ischemic stroke | stroke, Ischemic stroke |
32 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000665/ScoringFiles/PGS000665.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM001373 | PGS000665 (GRS_32) |
PSS000602| European Ancestry| 51,288 individuals |
PGP000125 | Marston NA et al. Circulation (2020) |
Reported Trait: Incident ischemic stroke | — | — | Hazard Ratio (HR, top vs. bottom tertile): 1.24 [1.05, 1.45] Hazard Ratio (HR, intermediate vs. bottom tertile): 1.15 [0.98, 1.36] |
age, sex, PCs(1-5), hypertension, hyperlipidemia, diabetes mellitus, smoking, bascular disease, congestive heart failure, atrial fibrillation | — |
| PPM001374 | PGS000665 (GRS_32) |
PSS000602| European Ancestry| 51,288 individuals |
PGP000125 | Marston NA et al. Circulation (2020) |
Reported Trait: Incident ischemic stroke | — | C-index: 0.65 [0.63, 0.66] | — | Clinical variables from the Revised Framingham Stroke Risk score, geographic region | — |
| PPM001375 | PGS000665 (GRS_32) |
PSS000601| European Ancestry| 11,187 individuals |
PGP000125 | Marston NA et al. Circulation (2020) |
Reported Trait: Incident ischemic stroke in individuals with atrial fibrillation | — | — | Hazard Ratio (HR, top vs. bottom tertile): 1.29 [1.01, 1.64] | age, sex, PCs(1-5), hypertension, hyperlipidemia, diabetes mellitus, smoking, bascular disease, congestive heart failure, atrial fibrillation, components of CHA2DS2-VASc score | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS000602 | The endpoint of interest was ischemic stroke. In each trial, ischemic stroke was formally adjudicated by an independent clinical endpoint committee blinded to treatment assignment. | Median = 2.5 years | [ ,
71.7 % Male samples |
Mean = 65.9 years Sd = 9.2 years |
European | — | ENGAGE_AF-TIMI_48, FOURIER, PEGASUS-TIMI_54, SAVOR-TIMI_53, SOLID-TIMI_52 | — |
| PSS000601 | All patients with atrial fibrillation and CHADS2 score of 2 or higher who were treated with anticoagulation. The endpoint of interest was ischemic stroke. In each trial, ischemic stroke was formally adjudicated by an independent clinical endpoint committee blinded to treatment assignment. | Median = 2.8 years | [ ,
60.78 % Male samples |
Mean = 70.8 years Sd = 9.1 years |
European | — | ENGAGE_AF-TIMI_48 | — |