Strategies for elucidating functional significance of complex disease related loci
10.3760/cma.j.issn.0253-9624.2015.04.004
- VernacularTitle:复杂性疾病遗传位点生物学功能研究策略
- Author:
Guangfu JIN
1
;
Jiangbo DU
;
Zhibin HU
;
Hongbing SHEN
Author Information
1. 210029南京医科大学公共卫生学院流行病与卫生统计学系
- Keywords:
Genome-wide association study;
Genetic loci;
Genome
- From:
Chinese Journal of Preventive Medicine
2015;(4):299-302
- CountryChina
- Language:Chinese
-
Abstract:
Genome-wide association studies (GWAS) have identified thousands of genetic loci associated with complex diseases or traits. However, the exact biological functions of these loci are largely unknown. Recent functional annotation indicates that the majority of disease/trait associated loci are concentrated in regulatory DNA of human genome. Expression quantitative trait loci (eQTL) analyses, chromosome conformation capture related methods and genome editing methods (such as CRISPR/Cas9) may facilitate the functional study of these loci. Research on noncoding RNAs and rare variants may improve the functional understanding. These efforts may promise translation of GWAS findings to clinical practices.
