摘要
全基因组关联分析(genomewide association study,GWAS)是应用人类基因组中数以百万计的单核苷酸多态性(single nucleotide polymorphism,SNP)为标记进行病例-对照关联分析,以期发现影响复杂性疾病发生的遗传特征的一种新策略。近年来,随着人类基因组计划和基因组单倍体图谱计划的实施,人们已通过GWAS方法发现并鉴定了大量与人类性状或复杂性疾病关联的遗传变异,为进一步了解控制人类复杂性疾病发生的遗传特征提供了重要的线索。然而,由于造成复杂性疾病/性状的因素较多,而且GWAS研究系统较为复杂,因此目前GWAS本身亦存在诸多的问题。本文将从研究方式、研究对象、遗传标记,以及统计分析等方面,探讨GWAS的研究现状以及存在的潜在问题,并展望GWAS今后的发展方向。
Genomewide association study （GWAS） is a novel strategy for discovering genetic basis of human complex disease or trait. It utilizes millions of single nucleotide polymorphisms （SNPs） , which cover the whole genome, to conduct case-control association studies. In recent years, following the newly es- tablished Human Genome Project （HGP） and International Human HapMap project, large number of human complex disease/trait associated genetic variants have been identified through GWAS method, which provides important clues for understanding the mechanisms of related disorders. Due to the complexity of these multi-factorial diseases/traits and the complication of GWAS system itself, the GWAS remains many problems. In this review, we will discuss the potential issues in the following aspects as research methods, study subjects, genetic markers and statistical analysis.
出处
《生理科学进展》
CAS
CSCD
北大核心
2010年第2期87-94,共8页
Progress in Physiological Sciences
关键词
全基因组关联分析
复杂疾病/性状
遗传变异
单核苷酸多态性
genomewide association study
complex disease/trait
genetic variations
single nucleotide polymorphism
