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Abstract：
Coronary artery disease (CAD) stands as the most predominant type of cardiovascular disease (CVD). Polygenic risk scores (PRSs) have become essential tools for quantifying genetic susceptibility, and researchers endeavor to improve their predictive precision. The aim of the present work is to assess the performance and the relative contribution of PRSs developed for CVD or CAD within a Greek population. The sample under study comprised 924 Greek individuals (390 cases with CAD and 534 controls) from the THISEAS study. Nine PRSs drawn from the PGS catalog were replicated and tested for CAD risk prediction. PRSs computations were performed in the R language, and snpStats was used to process genotypic data. Descriptive characteristics of the study were analyzed using the statistical software IBM SPSS Statistics v21.0. The effectiveness of each PRS was assessed using the PRS R2 metric provided by PRSice2. Among nine PRSs, PGS000747 greatly increased the predictive value of primary CAD risk factors by 21.6% (p-value = 2.63 × 10-25). PGS000012 was associated with a modest increase in CAD risk by 2.2% (p-value = 9.58 × 10-4). The remarkable risk discrimination capability of PGS000747 stands out as the most noteworthy outcome of our study.
摘要：
冠状动脉疾病（CAD）是心血管疾病（CVD）的最主要类型。多基因风险评分（PRS）已成为量化遗传易感性的重要工具，研究人员努力提高预测精度。本工作的目的是评估希腊人口中为CVD或CAD开发的PRS的性能和相对贡献。所研究的样本包括来自THISEAS研究的924名希腊个体（390例CAD病例和534例对照）。从PGS目录中提取的9个PRS被复制并测试用于CAD风险预测。PRS计算用R语言执行，snpStats用于处理基因型数据。使用统计软件IBMSPSSStatisticsv21.0分析研究的描述性特征。使用PRSice2提供的PRSR2度量评估每个PRS的有效性。在九个PRS中，PGS000747使主要CAD危险因素的预测价值大大提高了21.6％（p值=2.63×10-25）。PGS000012与CAD风险适度增加2.2％相关（p值=9.58×10-4）。PGS000747的显着风险辨别能力是我们研究中最值得注意的结果。
