Korean Genomics Center (KOGIC), Ulsan National Institute of Science and Technology (UNIST), Ulsan, Republic of Korea.
Department of Biomedical Engineering, School of Life Sciences, Ulsan National Institute of Science and Technology (UNIST), Ulsan, Republic of Korea.
PLoS One. 2021 Feb 4;16(2):e0246538. doi: 10.1371/journal.pone.0246538. eCollection 2021.
The polygenic risk score (PRS) developed for coronary artery disease (CAD) is known to be effective for classifying patients with CAD and predicting subsequent events. However, the PRS was developed mainly based on the analysis of Caucasian genomes and has not been validated for East Asians. We aimed to evaluate the PRS in the genomes of Korean early-onset AMI patients (n = 265, age ≤50 years) following PCI and controls (n = 636) to examine whether the PRS improves risk prediction beyond conventional risk factors.
The odds ratio of the PRS was 1.83 (95% confidence interval [CI]: 1.69-1.99) for early-onset AMI patients compared with the controls. For the classification of patients, the area under the curve (AUC) for the combined model with the six conventional risk factors (diabetes mellitus, family history of CAD, hypertension, body mass index, hypercholesterolemia, and current smoking) and PRS was 0.92 (95% CI: 0.90-0.94) while that for the six conventional risk factors was 0.91 (95% CI: 0.85-0.93). Although the AUC for PRS alone was 0.65 (95% CI: 0.61-0.69), adding the PRS to the six conventional risk factors significantly improved the accuracy of the prediction model (P = 0.015). Patients with the upper 50% of PRS showed a higher frequency of repeat revascularization (hazard ratio = 2.19, 95% CI: 1.47-3.26) than the others.
The PRS using 265 early-onset AMI genomes showed improvement in the identification of patients in the Korean population and showed potential for genomic screening in early life to complement conventional risk prediction.
已证实，针对冠心病（CAD）开发的多基因风险评分（PRS）对于 CAD 患者的分类和后续事件预测具有显著效果。然而，该 PRS 主要基于对高加索人基因组的分析，尚未在东亚人群中得到验证。我们旨在评估经 PCI 治疗的韩国早发急性心肌梗死（AMI）患者（n = 265，年龄 ≤50 岁）和对照组（n = 636）的基因组中的 PRS，以考察该 PRS 是否能够改善传统危险因素之外的风险预测。
与对照组相比，PRS 比值比（OR）为早发 AMI 患者的 1.83（95%置信区间[CI]：1.69-1.99）。对于患者分类，包含 6 项传统危险因素（糖尿病、CAD 家族史、高血压、体重指数、高胆固醇血症和当前吸烟）和 PRS 的联合模型的曲线下面积（AUC）为 0.92（95%CI：0.90-0.94），而包含 6 项传统危险因素的模型 AUC 为 0.91（95%CI：0.85-0.93）。虽然 PRS 单独的 AUC 为 0.65（95%CI：0.61-0.69），但将 PRS 添加到 6 项传统危险因素中显著提高了预测模型的准确性（P = 0.015）。PRS 处于上 50%分位数的患者重复血运重建的频率更高（危险比=2.19，95%CI：1.47-3.26）。
使用 265 例早发 AMI 基因组的 PRS 提高了韩国人群中患者的识别能力，并且可能通过对生命早期的基因组筛查来补充传统风险预测。
