人类复杂疾病关联研究中群体分层的检出和校正-中国管理科学.PDF

HEREDITAS (Beijing) 2007 1 , 29(1): 3―7 ISSN 0253-9772 综述 DOI: 10.1360/yc-007-0003 1,2 1,2 1,2 智联腾 , 周钢桥 , 贺福初 1. , , 100850; 2. , , 102206 : 病例对照研究是鉴定多基因疾病易感位点重要的遗传流行病学方法, 而群体分层是导致病例对照研究关 联研究结果出现偏倚甚至是假关联的重要原因之一。文章对人群分层的检出及校正的方法和原理进行了阐述, 包括基于核心家系的传递/ 不平衡检验(TDT) 以及基于不相关基因组遗传标记的基因组对照(GC)和结构化关联 (SA)等, 并且对这几种方法进行了比较。 : 关联研究; 人群分层; 传递不平衡检验; 基因组对照; 结构化关联 Detection and controlling for population stratification in association studies of human complex disease ZHI Lian-Teng1,2, ZHOU Gang-Qiao1,2, HE Fu-Chu1,2 1. Department of Genomics Proteomics , Beijing Institute of Radiation Medicine, Beijing 100850, China; 2. Department of Functional Genomics , Beijing Proteome Research Center, Beijing 102206, China Abstract: Case-control studies, which serve as standard design for genetic association analysis, can be the most practical and powerful approach to detect genetic polymorphisms contributing to susceptibility to complex human diseases. However, considerable concern has been expressed that this approach is prone to population stratification, which can lead to biased or spurious results. We review several methods to detect and account for population stratification; these methods include nu- clear family-based transmission/disequilibrium test (TDT), and genomic control (GC) and structured association (SA) based on unlinked genetic markers. Keywords: association study; population stratification; transmission/disequilibrium test; genomic control; structured asso- ciation , (Polygenic disease, (, Genetic susceptibility) Complex disease), , (Single , nucleotide