Publication Information (EuropePMC) | |
Title | Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians. |
PubMed ID | 32762905(Europe PMC) |
doi | 10.1016/j.jacc.2020.06.024 |
Publication Date | Aug. 1, 2020 |
Journal | J Am Coll Cardiol |
Author(s) | Wang M, Menon R, Mishra S, Patel AP, Chaffin M, Tanneeru D, Deshmukh M, Mathew O, Apte S, Devanboo C... S, Sundaram S, Lakshmipathy P, Murugan S, Sharma KK, Rajendran K, Santhosh S, Thachathodiyl R, Ahamed H, Balegadde AV, Alexander T, Swaminathan K, Gupta R, Mullasari AS, Sigamani A, Kanchi M, Peterson AS, Butterworth AS, Danesh J, Di Angelantonio E, Naheed A, Inouye M, Chowdhury R, Vedam RL, Kathiresan S, Gupta R, Khera AV.Show more |
Polygenic Score ID & Name
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PGS Publication ID (PGP)
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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 |
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
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Trait
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PGS Effect Sizes (per SD change) |
Classification Metrics
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Other Metrics
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Covariates Included in the Model
|
PGS Performance: Other Relevant Information |
---|---|---|---|---|---|---|---|---|---|
PPM000743 | PGS000296 (GPS_CAD_SA) | PSS000365| South Asian Ancestry| 491 individuals | PGP000090 | Wang M et al. J Am Coll Cardiol (2020) | Reported Trait: Myocardial infarction (first-ever) | OR: 1.6 [1.32, 1.94] | AUROC: 0.6632 | — | age, sex, top 5 genetic PCs | — |
PPM000744 | PGS000296 (GPS_CAD_SA) | PSS000365| South Asian Ancestry| 491 individuals | PGP000090 | Wang M et al. J Am Coll Cardiol (2020) | Reported Trait: Myocardial infarction (first-ever) | OR: 1.51 [1.22, 1.88] | — | — | age, sex, top 5 genetic PCs, diabetes, hypertension, hypercholesterolemia, family history of heart d... isease, current smoking, family history of myocardial infarctionShow more | — |
PPM000745 | PGS000296 (GPS_CAD_SA) | PSS000366| South Asian Ancestry| 2,963 individuals | PGP000090 | Wang M et al. J Am Coll Cardiol (2020) | Reported Trait: Coronary artery disease | OR: 1.66 [1.53, 1.81] | AUROC: 0.712 | — | age, sex, top 5 genetic PCs | — |
PPM000746 | PGS000296 (GPS_CAD_SA) | PSS000366| South Asian Ancestry| 2,963 individuals | PGP000090 | Wang M et al. J Am Coll Cardiol (2020) | Reported Trait: Coronary artery disease | OR: 1.58 [1.42, 1.75] | — | — | age, sex, top 5 genetic PCs, diabetes, hypertension, hypercholesterolemia, smoking, body mass index | — |
PPM000747 | PGS000013 (GPS_CAD) | PSS000367| South Asian Ancestry| 7,244 individuals | PGP000090 | Wang M et al. J Am Coll Cardiol (2020) |Ext. | Reported Trait: Coronary artery disease | OR: 1.5302 | AUROC: 0.8021 | — | age, sex, top 5 genetic PCs | — |
PPM000748 | PGS000013 (GPS_CAD) | PSS000365| South Asian Ancestry| 491 individuals | PGP000090 | Wang M et al. J Am Coll Cardiol (2020) |Ext. | Reported Trait: Myocardial infarction (first-ever) | OR: 1.4605 | AUROC: 0.6482 | — | age, sex, top 5 genetic PCs | — |
PPM000749 | PGS000013 (GPS_CAD) | PSS000366| South Asian Ancestry| 2,963 individuals | PGP000090 | Wang M et al. J Am Coll Cardiol (2020) |Ext. | Reported Trait: Coronary artery disease | OR: 1.5793 | AUROC: 0.7066 | — | age, sex, top 5 genetic PCs | — |
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods
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Participant Follow-up Time
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Sample Numbers
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Age of Study Participants
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Sample Ancestry
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Additional Ancestry Description
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Cohort(s)
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Additional Sample/Cohort Information
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PSS000365 | Case-control study of first-onset acute myocardial infarction | — | 244 individuals, 90.2 % Male samples | Mean = 33.0 years IQR = [30.0, 35.0] years | South Asian | — | BRAVE | — |
PSS000365 | Case-control study of first-onset acute myocardial infarction | — | [ ,
90.7 % Male samples | Mean = 34.0 years IQR = [30.0, 35.0] years | South Asian | — | BRAVE | — |
PSS000366 | Cases composed of men and women diagnosed with coronary artery disease. Controls were selected from ... consenting men and women without any form of heart disease. Show more | — | [ ,
90.2 % Male samples | Mean = 54.0 years IQR = [46.0, 60.0] years | South Asian | — | MedGenome | — |
PSS000366 | Cases composed of men and women diagnosed with coronary artery disease. Controls were selected from ... consenting men and women without any form of heart disease. Show more | — | 1,163 individuals, 76.4 % Male samples | Mean = 55.0 years IQR = [49.0, 62.0] years | South Asian | — | MedGenome | — |
PSS000367 | Ascertainment of coronary artery disease was based on self-report or hospital admission diagnosis. T... his included individuals with ICD-9 codes of 410.X, 411.0, 412.X, or 429.79, or ICD-10 codes of I21.X, I22.X, I23.X, I24.1, or I25.2 in hospitalization records. Coronary revascularization was assessed based on an OPCS-4 coded procedure for coronary artery bypass grafting (K40.1–40.4, K41.1–41.4, or K45.1–45.5), or coronary angioplasty with or without stenting (K49.1–49.2, K49.8–49.9, K50.2, K75.1–75.4, or K75.8–75.9).Show more | — | [ ,
86.7 % Male samples | Mean = 60.6 years IQR = [54.4, 66.1] years | South Asian | — | UKB | — |
PSS000367 | Ascertainment of coronary artery disease was based on self-report or hospital admission diagnosis. T... his included individuals with ICD-9 codes of 410.X, 411.0, 412.X, or 429.79, or ICD-10 codes of I21.X, I22.X, I23.X, I24.1, or I25.2 in hospitalization records. Coronary revascularization was assessed based on an OPCS-4 coded procedure for coronary artery bypass grafting (K40.1–40.4, K41.1–41.4, or K45.1–45.5), or coronary angioplasty with or without stenting (K49.1–49.2, K49.8–49.9, K50.2, K75.1–75.4, or K75.8–75.9).Show more | — | 6,846 individuals, 52.1 % Male samples | Mean = 52.8 years IQR = [46.3, 60.2] years | South Asian | — | UKB | — |