复杂疾病风险基因模块识别及其调控机制研究

Identification of complex disease risk gene module and its regulation mechanism research

类风湿性关节炎(RA)是一种自体免疫性复杂疾病,它由遗传因素和环境因素共同作用所决定。目前RA的发病及调控机制仍然不明确。本研究从系统层面提出了一个新的方法框架,利用已知的调控信息及功能关系来解释遗传因素。本研究基于全基因组关联研究(WTCCC)数据,结合SNPs基因型数据、通过UCSC基因组数据库,将风险SNP映射到各基因,并将基因映射到蛋白质互作网络进行风险基因定位与风险分析,发现大多数关键调控基因与RA有关。对每个风险基因模块,利用Transfac数据库探讨了这些基因与它们相应转录因子间调控机制,所获结果将为临床提供有益的借鉴。

Rheumatoid arthritis （RA） is a kind of autoimmune complex disease, it is determined by the combination of genetic factors and environmental factors. At present the pathogenesis of RA and its regulation mechanism are still not clear. This research car, ried on a Wellcome Trust Case Control Consortium （WTCCC） data, combined with SNPs genotype database, UCSC database, mapped genes to the protein - protein interaction network to risk gene localization and analysis and found most key regulation genes were related to RA. According to each risk gene modules we used Transfac database to explore the mechanisms of these genes and their transcription factors. The results we will get would bebeneficial for clinic consideration.