Tu Xin, Shi Li-Song, Wang Fan, Wang Qing
Center for Human Genome Research and College of Life Science and Technology, Key Laboratory of Molecular Biophysics of Ministry of Education, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan 430074, China.
Sheng Li Ke Xue Jin Zhan. 2010 Apr;41(2):87-94.
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 established 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.
全基因组关联研究(GWAS)是发现人类复杂疾病或性状遗传基础的一种新策略。它利用覆盖整个基因组的数百万个单核苷酸多态性(SNP)来进行病例对照关联研究。近年来,随着新建立的人类基因组计划(HGP)和国际人类单倍型图谱计划,通过GWAS方法已鉴定出大量与人类复杂疾病/性状相关的遗传变异,这为理解相关疾病的机制提供了重要线索。由于这些多因素疾病/性状的复杂性以及GWAS系统本身的复杂性,GWAS仍然存在许多问题。在本综述中,我们将从研究方法、研究对象、遗传标记和统计分析等方面讨论潜在问题。