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人类复杂疾病关联研究中群体分层的检出和校正
引用本文:智联腾,周钢桥,贺福初.人类复杂疾病关联研究中群体分层的检出和校正[J].遗传,2007,29(1):3-7.
作者姓名:智联腾  周钢桥  贺福初
作者单位:1. 军事医学科学院放射与辐射医学研究所, 基因组学与蛋白质组学研究室, 北京 100850;2. 北京蛋白质组研究中心, 功能基因组学研究室, 北京 102206 ;
基金项目:国家高技术研究发展计划(863计划),国家科技基金,军队科研项目,国家自然科学基金
摘    要: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 键 词:结构化关联  基因组对照  传递不平衡检验  关联研究  人群分层  
收稿时间:2006-03-17
修稿时间:03 17 2006 12:00AM

Detection and controlling for population stratification in association studies of human complex disease
ZHI Lian-Teng,ZHOU Gang-Qiao,HE Fu-Chu.Detection and controlling for population stratification in association studies of human complex disease[J].Hereditas,2007,29(1):3-7.
Authors:ZHI Lian-Teng  ZHOU Gang-Qiao  HE Fu-Chu
Institution: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
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