The Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY 11030, USA.
Cell. 2013 Sep 26;155(1):11-2. doi: 10.1016/j.cell.2013.08.050.
GWAS studies of autoimmune disorders have yielded hundreds of replicated associations, but moving from genetic association to functional studies with potential clinical relevance is a challenge. Leveraging GWAS data, Lee et al. now identify FOXO3 activity as predictive of disease severity in Crohn's disease and rheumatoid arthritis as well as malaria, likely by acting through regulation of cytokine production in monocytes.
GWAS 研究已经发现了数百个自身免疫性疾病的可重复关联,但从遗传关联到具有潜在临床相关性的功能研究是一个挑战。利用 GWAS 数据,Lee 等人发现 FOXO3 活性可预测克罗恩病和类风湿关节炎以及疟疾的疾病严重程度,这可能是通过调节单核细胞细胞因子的产生来实现的。