Publication Information (EuropePMC) | |
Title | Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing. |
PubMed ID | 36252120(Europe PMC) |
doi | 10.1161/circgen.122.003712 |
Publication Date | Oct. 12, 2022 |
Journal | Circ Genom Precis Med |
Author(s) | Saad M, El-Menyar A, Kunji K, Ullah E, Al Suwaidi J, Kullo IJ. |
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) |
---|---|---|---|---|---|---|
PGS000296 (GPS_CAD_SA) |
PGP000090 | Wang M et al. J Am Coll Cardiol (2020) |
Coronary artery disease | coronary artery disease | 6,630,150 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000296/ScoringFiles/PGS000296.txt.gz | |
PGS000337 (MetaPRS_CAD) |
PGP000104 | Koyama S et al. Nat Genet (2020) |
Coronary artery disease | coronary artery disease | 75,028 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000337/ScoringFiles/PGS000337.txt.gz |
PGS000018 (metaGRS_CAD) |
PGP000007 | Inouye M et al. J Am Coll Cardiol (2018) |
Coronary artery disease | coronary artery disease | 1,745,179 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000018/ScoringFiles/PGS000018.txt.gz | |
PGS000749 (PRS_COMBINED) |
PGP000152 | Gola D et al. Circ Genom Precis Med (2020) |
Coronary artery disease | coronary artery disease | 1,056,021 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000749/ScoringFiles/PGS000749.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 |
---|---|---|---|---|---|---|---|---|---|
PPM015569 | PGS000337 (MetaPRS_CAD) |
PSS009986| Greater Middle Eastern Ancestry| 7,023 individuals |
PGP000386 | Saad M et al. Circ Genom Precis Med (2022) |Ext. |
Reported Trait: Coronary heart disease | OR: 1.81 [1.66, 1.98] | AUROC: 0.667 [0.649, 0.685] | — | — | — |
PPM015570 | PGS000296 (GPS_CAD_SA) |
PSS009986| Greater Middle Eastern Ancestry| 7,023 individuals |
PGP000386 | Saad M et al. Circ Genom Precis Med (2022) |Ext. |
Reported Trait: Coronary heart disease | OR: 1.53 [1.42, 1.64] | AUROC: 0.683 [0.665, 0.701] | — | — | — |
PPM015571 | PGS000018 (metaGRS_CAD) |
PSS009986| Greater Middle Eastern Ancestry| 7,023 individuals |
PGP000386 | Saad M et al. Circ Genom Precis Med (2022) |Ext. |
Reported Trait: Coronary heart disease | OR: 1.54 [1.43, 1.66] | AUROC: 0.686 [0.667, 0.704] | — | — | — |
PPM015572 | PGS000749 (PRS_COMBINED) |
PSS009986| Greater Middle Eastern Ancestry| 7,023 individuals |
PGP000386 | Saad M et al. Circ Genom Precis Med (2022) |Ext. |
Reported Trait: Coronary heart disease | OR: 1.66 [1.51, 1.82] | AUROC: 0.645 [0.627, 0.663] | — | — | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS009986 | — | — | [ ,
47.0 % Male samples |
— | Greater Middle Eastern (Middle Eastern, North African or Persian) (Qatari) |
— | QBB | — |