Yun Hyunok, Lim Ji Eun, Lee Eun Young
Department of Nursing, Catholic Kkottongnae University, 28211 Cheongju, Republic of Korea.
Department of Biochemistry and Molecular Biology, School of Medicine, Kyung Hee University, 02447 Seoul, Republic of Korea.
Rev Cardiovasc Med. 2023 Apr 4;24(4):102. doi: 10.31083/j.rcm2404102. eCollection 2023 Apr.
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.
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.
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.
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.
使用遗传风险评分（GRS）预测冠心病（CHD）可能更早地发现疾病。本研究旨在评估GRS是否与冠心病发病率相关，以及它在结合传统风险因素（TRFs）和家族史进行预测时是否具有临床实用性。
本研究分析了韩国基因组与流行病学研究中总共48941名参与者的数据。基于已发表的全基因组关联研究，使用55个单核苷酸多态性构建加权GRS。使用Cox比例风险模型分析GRS与冠心病发病的关联。评估辨别力和重新分类以证明GRS的临床实用性。分析按性别分别进行。
在调整家族史和TRFs后，GRS与男性冠心病发病率显著相关；与低GRS组相比，高GRS组男性患冠心病的风险增加了2.07倍（95%置信区间[CI]：1.51 - 2.85）。在男性中，TRFs、家族史和GRS的组合比单独使用TRFs表现更好（仅TRF模型的C统计量为0.66，95%CI为0.64 - 0.69；组合模型的C统计量为0.68，95%CI为0.65 - 0.71；无类别重新分类指数为15%）。然而，在女性中，GRS与冠心病之间没有显著关联，模型之间也没有改善。
GRS与冠心病发病率相关，并在男性冠心病预测方面有小幅改善。GRS的潜在临床应用可能不超过家族史的价值。
