Please use this identifier to cite or link to this item: http://hdl.handle.net/2381/39756
Title: Marginal role for 53 common genetic variants in cardiovascular disease prediction
Authors: Morris, Richard W.
Cooper, Jackie A.
Shah, Tina
Wong, Andrew
Drenos, Fotios
Engmann, Jorgen
McLachlan, Stela
Jefferis, Barbara
Dale, Caroline
Hardy, Rebecca
Kuh, Diana
Ben-Shlomo, Yoav
Wannamethee, S. Goya
Whincup, Peter H.
Casas, Juan-Pablo
Kivimaki, Mika
Kumari, Meena
Talmud, Philippa J.
Price, Jacqueline F.
Dudbridge, Frank
Hingorani, Aroon D.
Humphries, Steve E.
UCLEB Consortium
First Published: 30-Jun-2016
Publisher: BMJ Publishing Group
Citation: Heart, 2016, 102 (20), pp. 1640-1647
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%-<20% and prescribing statins where risk exceeded 20% suggested that genetic information could prevent one additional event for every 462 people screened. CONCLUSION: The gene score produced minimal incremental population-wide utility over phenotypic risk prediction of CVD. Tailored prediction using genetic information for those at intermediate risk may have clinical utility.
DOI Link: 10.1136/heartjnl-2016-309298
ISSN: 1355-6037
eISSN: 1468-201X
Links: http://heart.bmj.com/content/102/20/1640
http://hdl.handle.net/2381/39756
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the authors, 2016. This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Appears in Collections:Published Articles, Dept. of Health Sciences

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