Research strategy of the case-control post-genome-wide association study
10.11958/j.issn.0253-9896.2015.07.030
- VernacularTitle:后全基因组病例对照研究时代的功能研究策略
- Author:
Jiayu LIU
;
Lina ZHANG
;
Hong ZHENG
- Publication Type:Journal Article
- Keywords:
genome;
case-control studies;
polymorphism,single nucleotide;
genome-wide association study;
fine map-ping;
functional study;
susceptibility gene;
review
- From:
Tianjin Medical Journal
2015;(7):810-812,813
- CountryChina
- Language:Chinese
-
Abstract:
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 genetic variants have been identified through GWAS method. However, the biological function of these genetic variants is not very clear. 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.