后全基因组病例对照研究时代的功能研究策略

Research strategy of the case-control post-genome-wide association study

自首次报道了有关人类年龄相关性黄斑变性的全基因组关联研究(GWAS)以来,人们通过GWAS方法发现并鉴定了大量与人类复杂性疾病关联的遗传变异。但是,对这些遗传变异位点的生物学功能尚不十分清楚。本文重点介绍了在后GWAS时代,对疾病易感基因位点进行精细定位的方法和功能学研究进展。在后GWAS时代,遗传机制研究可以帮助临床深入地理解疾病的发病机制。

Since the first paper reported the finding of genetic variation contributing to human age-related macular de-generation by genome-wide association study（GWAS） in 2005, large number of human complex diseases associated geneticvariants have been identified through GWAS method. However, the biological function of these genetic variants is not veryclear. The present paper reviewed the methods of fine-mapping and the progress of the functional studies for these suscepti-bility variants. In the post GWAS Era, the study of genetic mechanisms can help us to understand the disease pathogenesis.