Publication: Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention.

Information

PGS Catalog Publication (PGP) ID: PGP000007
PubMed ID: 30309464
doi: 10.1016/j.jacc.2018.07.079

Publication Date: Oct. 1, 2018

Journal: J Am Coll Cardiol

Authors: Inouye M, Abraham G, Nelson CP, Wood AM, Sweeting MJ, Dudbridge F, Lai FY, Kaptoge S, Brozynska M, Wang T, Ye S, Webb TR, Rutter MK, Tzoulaki I, Patel RS, Loos RJF, Keavney B, Hemingway H, Thompson J, Watkins H, Deloukas P, Di Angelantonio E, Butterworth AS, Danesh J, Samani NJ, UK Biobank CardioMetabolic Consortium CHD Working Group.

PGS Associated with PGP000007

PGS Developed By This Study

External PGS Evaluated By This Study

PGS Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.
PGS Performance Metric (PPM) ID Evaluated Score PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000027 PGS000018 (metaGRS_CAD) PSS000018 Inouye M et al. (2018) Reported Trait: Incident coronary artery disease HR: 1.706 [1.682 - 1.73] AUROC: 0.79
C-index: 0.623 [0.615 - 0.631]
AUPRC: 0.161 sex, genetic PCs (1-10), genotyping array age-as-time-scale Cox regression
PPM000028 PGS000012 (GRS49K) PSS000018 Inouye M et al. (2018) Ext. Reported Trait: Incident coronary artery disease HR: 1.524 [1.498 - 1.551] sex, genetic PCs (1-10), genotyping array Used GRS46K (excludes A/T and C/G SNPs, with performance similar to GRS49K)
PPM000029 PGS000011 (GRS50) PSS000018 Inouye M et al. (2018) Ext. Reported Trait: Incident coronary artery disease HR: 1.263 [1.247 - 1.28] sex, genetic PCs (1-10), genotyping array

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000018 CAD was defined as fatal or nonfatal myocardial infarction (MI) cases, percutaneous transluminal coronary angioplasty (PTCA), or coronary artery bypass grafting (CABG). Prevalent versus incident status was relative to the UKB enrollment assessment. In UKB self-reported data, cases were defined as having had a heart attack diagnosed by a doctor (data field #6150); “non-cancer illnesses that self-reported as heart attack” (data field #20002); or self-reported operation including PTCA, CABG, or triple heart bypass (data field #20004). In HES hospital episodes data and death registry data, MI was defined as hospital admission or cause of death due to ICD-9 410 to 412, or ICD-10 I21 to I24 or I25.2; CABG and PTCA were defined as hospital admission OPCS-4 K40 to K46, K49, K50.1,or K75. 482,629 individuals
[ 22,242 cases, 460,387 controls]
45.6 % Male samples
Other ~95% European ancestry samples, <5% non-European ancestry UKB