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BMJ Publishing Group, Heart, 20(102), p. 1640-1647, 2016

DOI: 10.1136/heartjnl-2016-309298

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Marginal role for 53 common genetic variants in cardiovascular disease prediction

Journal article published in 2016 by Richard W. Morris, Jackie A. Cooper, Tina Shah, Andrew Wong, Fotios Drenos, Jorgen Engmann, Stela McLachlan, Barbara Jefferis ORCID, Caroline Dale, Rebecca Hardy, Diana Kuh, Yoav Ben-Shlomo ORCID, S. Goya Wannamethee, Peter H. Whincup, Juan-Pablo Casas and other authors.
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Abstract

Objective We investigated discrimination and calibration of cardiovascular disease (CVD) risk scores when genotypic was added to phenotypic information. The potential of genetic information for those at intermediate risk by a phenotype-based risk score was assessed. Methods Data were from seven prospective studies including 11 851 individuals initially free of CVD or diabetes, with 1444 incident CVD events over 10 years' follow-up. We calculated a score from 53 CVD-related single nucleotide polymorphisms and an established CVD risk equation ‘QRISK-2’ comprising phenotypic measures. The area under the receiver operating characteristic curve (AUROC), detection rate for given false-positive rate (FPR) and net reclassification improvement (NRI) index were estimated for gene scores alone and in addition to the QRISK-2 CVD risk score. We also evaluated use of genetic information only for those at intermediate risk according to QRISK-2. Results The AUROC was 0.635 for QRISK-2 alone and 0.623 with addition of the gene score. The detection rate for 5% FPR improved from 11.9% to 12.0% when the gene score was added. For a 10-year CVD risk cut-off point of 10%, the NRI was 0.25% when the gene score was added to QRISK-2. Applying the genetic risk score only to those with QRISK-2 risk of 10%–