全基因组关联分析: 基因组学研究的机遇与挑战

摘要/Abstract

摘要： 全基因组关联分析(genome wide association study, GWAS) 是利用全基因组范围内筛选出高密度的分子标记对所研究的群体进行扫描, 分析扫描得出的分子标记数据与表型性状之间关联关系的方法。GWAS的出现为全面系统地研究基因组学掀开了新的一页, 目前主要应用于人类疾病复杂性状的分析, 已鉴定出大量与人类复杂疾病或数量性状相关的遗传变异, 成为研究人类基因组学的关键手段。在植物基因组中的研究应用虽刚刚起步, 但也取得了良好的效果, 应用GWAS发掘植物复杂数量性状基因、为植物分子育种提供依据已成为国际植物基因组学研究的热点。然而, GWAS的结果还存在一些问题, 并非早期预测和想象的那样简单。现针对GWAS的特点, 对其在人类基因组和植物基因组中的应用及其未来发展进行综述。

关键词: 全基因关联分析(GWAS), 分子标记, 功能基因组学

Abstract: Genome wide association study(GWAS)is about screening for high-density molecular markers in certain populations in the range of the whole genome, then analyzing the correlations between the data of the molecular markers and the phenotypic traits. GWAS opened up a new chapter in genomic and genetic research, enabling linking genomics and genetics in unprecedented scale. GWAS is mainly applied in the analysis of complex traits of human diseases, leading to the identification of a number of genetic variants related to complex diseases and quantitative traits in human, hence it is to become one of the key approaches for human genomics. Application of GWAS in plant genomics just began, yet it has shown great advantages. It is becoming a research trend in plant genomics to use GWAS to discover genes related to complex quantitative traits to guide breeding programs. However, there exist some problems in GWAS, which are not as simple as expected. This review summarizes the current knowledge on GWAS with special emphasis on its applications in human and plant genomes and highlights its potential areas for future research.

Key words: Genome wide association study(GWAS), Molecular markers, Functional genomics

张雁明, 邢国芳, 刘美桃, 刘晓东, 韩渊怀. 全基因组关联分析: 基因组学研究的机遇与挑战[J]. 生物技术通报, 2013, 0(6): 1-6.

Zhang Yanming, Xing Guofang, Liu Meitao, Liu Xiaodong, Han Yuanhuai. Genome Wide Association Study: Opportunities and Challenges in Genomic Research[J]. Biotechnology Bulletin, 2013, 0(6): 1-6.

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