| Publication Information (EuropePMC) | |
| Title | Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls. |
| PubMed ID | 33539413(Europe PMC) |
| doi | 10.1371/journal.pone.0246538 |
| Publication Date | Feb. 4, 2021 |
| Journal | PLoS One |
| Author(s) | Bhak Y, Jeon Y, Jeon S, Yoon C, Kim M, Blazyte A, Kim Y, Kang Y, Kim C, Lee SY, Bae JW, Kim W, Kim YJ, Shim J, Kim N, Chun S, Kim BC, Kim BC, Lee S, Bhak J, Shin ES. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000013 (GPS_CAD) |
PGP000006 | Khera AV et al. Nat Genet (2018) |
Coronary artery disease | coronary artery disease | 6,630,150 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000013/ScoringFiles/PGS000013.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM020267 | PGS000013 (GPS_CAD) |
PSS011315| East Asian Ancestry| 901 individuals |
PGP000534 | Bhak Y et al. PLoS One (2021) |Ext. |
Reported Trait: Early onset acute myocardial infarction following percutaneous coronary intervention | OR: 1.83 [1.69, 1.99] | AUROC: 0.65 [0.61, 0.69] | — | — | — |
| PPM020269 | PGS000013 (GPS_CAD) |
PSS011316| East Asian Ancestry| 197 individuals |
PGP000534 | Bhak Y et al. PLoS One (2021) |Ext. |
Reported Trait: Cumulative event of repeat revascularization following percutaneous coronary intervention | HR: 1.64 [1.12, 2.38] | — | Hazard ratio (HR, top 50% vs bottom 50%): 2.19 [1.47, 2.36] | — | — |
| PPM020270 | PGS000013 (GPS_CAD) |
PSS011316| East Asian Ancestry| 197 individuals |
PGP000534 | Bhak Y et al. PLoS One (2021) |Ext. |
Reported Trait: Cumulative event of repeat revascularization following percutaneous coronary intervention | HR: 1.65 [1.11, 2.46] | — | — | Body mass index, hypertension, current smoking, diabetes mellitus, hypercholesterolemia, family history of coronary artery disease | — |
| PPM020268 | PGS000013 (GPS_CAD) |
PSS011315| East Asian Ancestry| 901 individuals |
PGP000534 | Bhak Y et al. PLoS One (2021) |Ext. |
Reported Trait: Early onset acute myocardial infarction following percutaneous coronary intervention | — | AUROC: 0.92 [0.9, 0.94] | — | Current smoking, hypercholesterolemia, body mass index, hypertension, family history of coronary artery disease, diabetes mellitus | significant contribution of the PRS to the risk factor model p=0.015 |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS011315 | The patients were hospitalized with a diagnosis of and treatment for an ST-segment elevation myocardial infarction or non-ST-segment elevation myocardial infarction; they were ≤50 years old and had undergone PCI at three hospitals. | Median = 43.0 months | [ ,
63.82 % Male samples |
— | East Asian (Korean) |
— | KGP | — |
| PSS011316 | Cases were individuals with repeat revascularizations. The patients were hospitalized with a diagnosis of and treatment for an ST-segment elevation myocardial infarction or non-ST-segment elevation myocardial infarction; they were ≤50 years old and had undergone PCI at three hospitals. | [
|
— | East Asian (Korean) |
— | KGP | — |