全基因组关联研究中的二阶段病例对照设计  

Using two-stage case-control designs to study the genome-wide association

作　　者：马昭君[1] 易洪刚[1] 赵杨[1] 陈峰[1] 

机构地区：[1]南京医科大学流行病与卫生统计学系,210029

出　　处：《中华流行病学杂志》2010年第10期1184-1187,共4页Chinese Journal of Epidemiology

基　　金：基金项目：国家自然科学基金（81072389）;江苏省高校自然科学研究重大项目（10KJA330034）

摘　　要：全基因组关联研究（GWAS）已成为寻找疾病致病基因的重要手段,但是研究费用昂贵,大部分研究者选择了资源利用率更高的二阶段设计.为系统阐述二阶段病例对照设计的研究设计和统计分析方法,论文作者结合实例分析介绍了其设计的基本原理,在GWAS中的实施步骤、统计分析策略以及应用特点和现状.Genome-wide association study is an important approach to identify common genetic variants that predispose to human disease. Because of the high cost of genotyping on hundreds of thousands of markers on thousands of subjects, a more cost-effective two-stage case-control design is applied by most genome-wide association studies. To describe the design and statistical methods of the two-stage case-control study, this paper introduces the principles of two-stage case-control design, its implementing steps in genome-wide association study and the features of its application.The method is illustrated with an example.

关 键 词：全基因组关联研究 二阶段设计 病例对照 

分 类 号：R341[医药卫生—基础医学]