IMR Press / RCM / Volume 24 / Issue 4 / DOI: 10.31083/j.rcm2404102
Open Access Original Research
Genetic Risk Score for Prediction of Coronary Heart Disease in the Korean Genome and Epidemiology Study
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1 Department of Nursing, Catholic Kkottongnae University, 28211 Cheongju, Republic of Korea
2 Department of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University, 02447 Seoul, Republic of Korea
*Correspondence: eylee@kkot.ac.kr (Eun Young Lee)
Rev. Cardiovasc. Med. 2023, 24(4), 102; https://doi.org/10.31083/j.rcm2404102
Submitted: 7 December 2022 | Revised: 25 January 2023 | Accepted: 8 February 2023 | Published: 4 April 2023
Copyright: © 2023 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license.
Abstract

Background: Using a genetic risk score (GRS) to predict coronary heart disease (CHD) may detect disease earlier. The current study aims to assess whether GRS is associated with CHD incidence and whether it is clinically useful for improving prediction using traditional risk factors (TRFs) as well as family history. Methods: Data from a total of 48,941 participants in the Korean Genome and Epidemiology Study were analyzed in the current study. The weighted GRS was constructed using 55 single-nucleotide polymorphisms based on published genome-wide association studies. The association of GRS with incident CHD was analyzed using Cox proportional hazard model. Discrimination and reclassification were assessed to demonstrate the clinical utility of GRS. The analyses were performed separately by sex. Results: After adjusting for family history and TRFs, GRS was significantly associated with CHD incidence in men; compared to the low GRS group, men in the high GRS group had a 2.07-fold increased risk of CHD (95% confidence interval [CI]: 1.51–2.85). In men, the combination of TRFs, family history, and GRS had better performance than TRFs alone (C statistics for TRF-only model, 0.66, 95% CI, 0.64–0.69; C statistics for combination model, 0.68, 95% CI, 0.65–0.71; category-free reclassification index, 15%). In women, however, there was no significant association between GRS and CHD and no improvement between models. Conclusions: GRS was associated with CHD incidence and contributed to a small improvement of CHD prediction in men. The potential clinical use of GRS may not outweigh the value of family history.

Keywords
coronary heart disease
genetic risk score
risk prediction
Funding
2020R1A2C1014449/National Research Foundation of Korea (NRF)
Figures
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