多基因疾病风险模型的建立与评估  

Establishment and evaluation of the polygenic disease risk prediction model

作　　者：朱小琼 周雄 蔡鹏[2] 何奕达 张宏伟[2] 谭晓㛃 曹广文 ZHU Xiaoqiong;ZHOU Xiong;CAI Peng;HE Yida;ZHANG Hongwei;TAN Xiaojie;CAO Guangwen(Department of Nutrition and Food Hygiene,School of Public Health,Anhui Medical University,Hefei,Anhui 230032,China;Department of Epidemiology,Faculty of Naval Medicine,Naval Medical University,Shanghai Key Laboratory of Medical Bio Protection and Key Laboratory of Biological Defense,Shanghai 200433,China)

机构地区：[1]安徽医科大学公共卫生学院营养与食品卫生学系,安徽合肥230032 [2]海军军医大学海医系海军流行病学教研室,上海市医学生物防护重点实验室,生物安全防御教育部重点实验室,上海200433

出　　处：《上海预防医学》2023年第10期1044-1048,共5页Shanghai Journal of Preventive Medicine

基　　金：国家自然科学基金重大研究计划集成项目(91529305);国家自然科学基金国际合作与交流项目(81520108021);国家自然科学基金面上项目(81673250);国家自然科学基金青年项目(82003538);上海市公共卫生重点学科(GWV-10.1-XK17);上海市扬帆计划(20YF1458800)。

摘　　要：通过遗传易感基因和环境危险因素建立疾病风险预测模型,尽早锁定高危人群,可积极干预该人群中的环境危险因素,同时对遗传易感人群进行精准筛查,从而提高卫生系统效益。近年来,由于高通量基因检测技术趋向成熟,成本逐渐下降,使得基因检测在个体临床决策中得以广泛应用,并将在医疗卫生决策中发挥更加重要的作用。基因检测与疾病风险预测的相关性越来越大,已经成为该领域研究的热点。本文总结了建立和评估疾病风险模型的方法,并探讨了未来可能面对的挑战和机遇。To establish a disease risk prediction model based on genetic susceptibility genes and environmental risk factors,which can target high-risk population as early as possible,and intervene in the environmental risk factors in this population.Moreover,accurate screening of genetically susceptible populations can enhance the efficiency of health system.In recent years,with the maturation and cost reduction of highthroughput gene testing,gene testing has been widely used in individual clinical decision-making and will play a more important role in medical and health decision-making.The correlation between genetic testing and disease risk prediction is increasing,making it a prominent research topic in this field.This review summarizes the approaches for establishing and evaluating risk prediction models and discusses potential future challenges and opportunities.

关 键 词：多基因风险评分 风险预测模型 单核苷酸多态性 环境因素 

分 类 号：R1[医药卫生—公共卫生与预防医学]