多基因风险评分与复杂性疾病风险预测和精准预防:机遇和挑战

Application of polygenic risk scores in risk prediction and precision prevention of complex diseases:opportunities and challenges

随着人类基因组学研究的飞跃发展,全基因组关联研究已成功鉴定出大量复杂性疾病的易感位点。多基因风险评分通过综合多个易感位点信息预测疾病风险,在人群风险预测、优化筛查方案、实施精准预防等方面初显应用价值。本研究就多基因风险评分的最新进展作一概述,总结其应用机遇和挑战。

Along with the rapid progress in the field of human genomics,genome-wide association studies have successfully identified numerous risk loci for complex diseases.Polygenic risk scores can predict disease risk by integrating the effects of multiple susceptibility loci,and begin to show good performance for improving risk prediction,screening strategy and precision prevention.This paper briefly reviews the recent progress of polygenic risk scores in disease prevention,and summarizes the opportunities and challenges of its application.