以家庭为基础的关联检验在遗传流行病学中的应用 ; Application of 'Family-Based Association Test' in studying genetic epidemiology

简述以家庭为基础的关联检验(FBAT)分析遗传标记等位基因与疾病表型之间关联的方法 在遗传流行病学研究中的应用.介绍FBAT的设计原理、基本步骤、应用原则,并结合实例说明如何利用相应的软件有效分析核心家庭数据.分析表明,相对于其他传统的遗传分析方法 ,FBAT可以充分利用双亲基因型、受累子代基因型及其表型的家系数据,同时还以其他性状,如环境暴露数据作为协变量,进行双等位基因或多等位基因与疾病表型的关联分析,其设计优势为可消除病例和不相关对照之间由于种族差异产生的虚假关联,有效控制由于群体分层引起的偏倚,较其他方法 有更高的检验效率.适用于核心家庭或家系资料的遗传分析,是目前为数不多的进行疾病与遗传标志物关联检验的家系遗传分析方法之一. ; To introduce the application of Family-Based Association Test (FBAT) in detecting the association or linkage between marker alleles and phenotype or traits in genetic epidemiology. A brief overview on basic steps involved in design, implementation, principles of application, available software as well as the use and feature of FBAT method, were explained based on data from nuclear family. Advantages of FBAT were compared to conventional genetic statistics approaches. Data showed that this approach might make the most use of parental genotype,genotype of affected offspring and their phenotype to test the association between biallelic or multi-allelic markers, phenotype or traits to their conditional distributions given the minimal sufficient statistics under the null hypothesis for the genetic model. Covariates, such as traits or environmental exposures, might be included into this proudure so as to effectively control the bias of population admixture through adjustment of variables. FBAT could be used for genetic analysis with data from nuclear family since it is more advantageous than the conventional statistical methods. ; 国家重点基础研究发展规划(973计划); 中国博士后科学基金; 长江学者奖励计划; 北京大学面向21世纪教育振兴行动计划（985计划）; 北京大学211工程资助项目 ; PubMed ; 中文核心期刊要目总览(PKU) ; 中国科技核心期刊(ISTIC) ; 中国科学引文数据库(CSCD) ; 0 ; 12 ; 1255-1259 ; 29