全基因组关联研究在复杂性疾病遗传研究中的应用

Application of Genomewide Association Studies in Complex Human Disease

在过去的几年中,人们应用全基因组关联研究(genomewide association studies,GWAS)对多种人类复杂性疾病及性状进行研究,如糖尿病、肿瘤、心血管疾病、神经精神系统疾病、自身免疫性疾病等,且已经鉴定出大量与之密切相关的遗传变异,为进一步探索人类复杂性疾病的遗传特征提供重要线索。但是,由于影响复杂性疾病的因素较多,许多已发现遗传变异对疾病贡献较小,作用机制尚不清楚,现全基因组关联研究亦存在许多问题。今本文就GWAS在复杂性疾病中的应用做一综述,并就其前景做一展望。

In the past few years,people have been researching many kinds of complex human diseases and traits with genomewide association studies（GWAS）,such as diabetes,tumor,cardiovascular disease,neuropsychiatric disorder,autoimmune disease,and so on,and have identified a large number of closely related genetic variation,providing important clues for further exploring the genetic characteristics of complex human disease.However,due to many factors affect complex disease,many have found genetic variations have little contribution to disease,and the mechanism is unclear,GWAS remains many problems.In this paper,we present an overview of GWAS in complex disease,and the prospect is discussed.