TCF7L2多态性与2型糖尿病关系的研究进展

Development of the association of TCF7L2 polymorphism with type 2 diabetes

2型糖尿病是一种多基因遗传病,多个微效基因的累加作用造成携带致病基因个体对糖尿病的遗传易感性。转录因子7类似物2(TCF7L2)是继过氧化物酶体增殖物激活受体γ、KCNJ11等之后被确认的又一个2型糖尿病易感基因,其危险等位基因是迄今发现的与2型糖尿病的发生关联最强的变异,常见危险位点为rs7903146和rs12255372。TCF7L2属于核受体家族,间接介导Wnt信号传导通路。TCF7L2变异个体的表型为糖刺激后胰岛素分泌不足,但其增加2型糖尿病发病风险的机制尚未明确。

Type 2 diabetes is a muhifaetorial disease, and it is the cumulative result of multiple minor-effect gene variants that determine an individual＇s susceptibility to developing diabetes. Transcription factor 7 like 2 （TCF7L2） gene is identified as another susceptibility gone of type 2 diabetes after PPARγ, KCNJ11. TCF7L2 polymorphism has the most important one that is associated with the onset of type 2 diabetes among the risk genes found to date ,with the common risk loci at rs7903146 and rs12255372. TCF7L2 belongs to the nuclear receptor family and indirectly mediates Wnt signaling pathway. TCF7L2 variation is associated with insufficient insulin secretion after glueagons stimulation, however, the mechanism by which TCFTL2 variants increase the incidence of type 2 diabetes is yet not to be identified.