关键词: 研究设计, 拷贝数变异, 复杂疾病, 全基因组关联研究

Abstract:

Genome-wide association study used to be a dream of geneticists years ago, but now it came true. Since the first paper reported the finding of genetic variation contributing to human age-related macular degeneration by genome-wide association study in 2005, a numbers of whole genome studies have been published. The present paper reviewed some common comments in whole genome association study on complex diseases, including achievements of genome-wide asso-ciation studies on complex traits or diseases, principles of study design, selection of genetic marker in genome, and com-parisons of different commercial products for whole genome association study. Finally a newly defined genetic variation, copy number variation, was briefly introduced. This paper also summarized the shortcomings of current genome-wide asso-ciation studies and perspectives of its future.