植物学报 ›› 2020, Vol. 55 ›› Issue (6): 715-732.DOI: 10.11983/CBB20091

• 特邀专家方法 • 上一篇    下一篇

生物信息学分析方法I: 全基因组关联分析概述

赵宇慧1, 李秀秀1,2, 陈倬1,2, 鲁宏伟1,2, 刘羽诚1,2, 张志方1,2, 梁承志1,2,*()   

  1. 1中国科学院遗传与发育生物学研究所, 北京 100101
    2中国科学院大学, 北京 100049
  • 收稿日期:2020-05-20 接受日期:2020-08-26 出版日期:2020-11-01 发布日期:2020-11-11
  • 通讯作者: 梁承志
  • 作者简介:*E-mail: cliang@genetics.ac.cn
  • 基金资助:
    中国科学院战略性先导科技专项(XDA24040201)

An Overview of Genome-wide Association Studies in Plants

Yuhui Zhao1, Xiuxiu Li1,2, Zhuo Chen1,2, Hongwei Lu1,2, Yucheng Liu1,2, Zhifang Zhang1,2, Chengzhi Liang1,2,*()   

  1. 1Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China
    2University of Chinese Academy of Sciences, Beijing 100049, China
  • Received:2020-05-20 Accepted:2020-08-26 Online:2020-11-01 Published:2020-11-11
  • Contact: Chengzhi Liang

摘要: 全基因组关联分析(GWAS)是动植物复杂性状相关基因定位的常用手段。高通量基因分型技术的应用极大地推动了GWAS的发展。在植物中, 利用GWAS不仅能够以较高的分辨率在全基因组水平鉴定出各种自然群体特定性状相关的基因或区间, 而且可揭示表型变异的遗传架构全景图。目前, 人们利用GWAS分析方法已在拟南芥(Arabidopsis thaliana)、水稻(Oryza sativa)、小麦(Triticum aestivum)、玉米(Zea mays)和大豆(Glycine max)等模式植物和重要农作物品系中发掘出与各种性状显著相关的数量性状座位(QTL)及其候选基因位点, 阐明了这些性状的遗传基础, 并为揭示这些性状背后的分子机理提供候选基因, 也为作物高产优质品种的选育提供了理论依据。该文对GWAS的方法、影响因素及数据分析流程进行了详细描述, 以期为相关研究提供参考。

关键词: 混合线性模型, 全基因组关联分析(GWAS), 生物信息学

Abstract: Genome-wide association study (GWAS) is a general approach for unraveling genetic variations associated with complex traits in both animals and plants. The development of high-throughput genotyping has greatly boosted the development and application of GWAS. GWAS is not only used to identify genes/loci contributing to specific traits from diversenatural populations with high-resolution genome-wide markers, it also systematically reveals the genetic architecture underlying complex traits. During recent years, GWAS has successfully detected a large number of QTLs and candidate genes associated with various traits in plants including Arabidopsis, rice, wheat, soybean and maize. All these findings provided candidate genes controlling the traits and theoretical basis for breeding of high-yield and high-quality varieties. Here we review the methods, the factors affecting the power, and a data analysis pipeline of GWAS to provide reference for relevant research.

Key words: mixed linear model, genome-wide association study (GWAS), bioinformatics