摘要
近年来,全基因组关联研究鉴定了大量复杂性疾病的遗传易感位点。多基因遗传风险评分通过整合多个易感位点的效应,已被证明可用于量化多种复杂性疾病的遗传风险,对于人群风险分层以及进一步实现精准医学目标存在潜在应用价值。本文介绍了多基因遗传风险评分构建及其评价方法,并就其在精准预防应用中的最新研究进展做概述。
Genome-wide association studies have successfully identified numerous genetic loci for complex diseases.Polygenic risk score combining multiple loci together has been proved to effectively measure genetic risk of complex diseases,which poses opportunities for risk stratification and potential precision medicine application.This paper briefly reviews the recent progress in the development and evaluation of polygenic risk score,and summarizes its application in precision prevention.
作者
汪天培
靳光付
胡志斌
沈洪兵
WANG Tian-pei;JIN Guang-fu;HU Zhi-bin;SHEN Hong-bing(Department of Epidemiology,School of Public Health,Nanjing Medical University,Nanjing 211166,China;School of Gusu,Nanjing Medical University,Suzhou 215008,China)
出处
《中华疾病控制杂志》
CAS
CSCD
北大核心
2021年第9期993-997,共5页
Chinese Journal of Disease Control & Prevention
基金
国家自然科学基金(81872702)。
