关键词: 多态性, TCF7L2基因, 2型糖尿病, 维吾尔族

Abstract: Objective To study the association of transcription factor 7-like 2(TCF7L2) polymorphisms with type 2 diabetes mellitus in Uygur population of Xinjiang region. Methods In this case-control study，819 cases of type 2 diabetes mellitus patients were recruited in case group and 731 healthy individuals were selected as control. 5 mL of blood sample was collected from each subject，from which the DNA was extracted. The polymorphism was detected by matrix-assisted laser desorption/ionization–time of flight (MALDI-TOF) and the OR value (95%CI) was evaluated by Logistic Regression Method to analyze the relationship between susceptibility to type 2 diabetes mellitus and different genotypes. Results In case group, the frequencies of TC, CC genotype and C allele at rs7901695 were higher than the corresponding frequencies in control group (P<0.05). The interaction between TCF7L2 and environment risk factors did not seem to have contributed to the occurrence of the type 2 diabetes mellitus. Conclusions The polymorphisms of rs7091695 in TCF7L2 gene may be associated with type 2 diabetes mellitus in Uygur population from Xinjiang region，while the polymorphisms of rs7085532 in TCF7L2 gene may not be associated with type 2 diabetes mellitus in Uygur population from Xinjiang region.

Key words: polymorphisms, TCF7L2 gene, type2 diabetes mellitus, Uygur