【摘要】 目的 探讨转录因子7类似物2(transcription factor 7 analogue 2,TCF7L2)的单核苷酸多态性(single nucleotide polymorphism, SNP)位点与2型糖尿病(type 2 diabetes mellitus, T2DM)之间的相关性，为个体T2DM发病风险的预测及早期干预提供依据。方法 采用回顾性病例-对照研究，选取2020年新疆维吾尔自治区墨玉县医院维吾尔族150例T2DM患者为病例组，另选取同期健康体检者218例为对照组。采用MGB探针检测两组TCF7L2基因rs7901695位点的基因型，并进行相关问卷调查和生化指标检测。采用Logistic回归模型分析不同遗传模型中基因型与T2DM遗传易感性的关联性。结果 两组在空腹血糖和低密度脂蛋白胆固醇水平方面比较，差异有统计学意义(P<0.05)。两组间TCF7L2基因rs7901695位点的等位基因和基因型分布频率比较，差异均无统计学意义(P>0.05)。多因素Logistic回归分析结果显示，在调整协变量后，TCF7L2基因rs7901695位点CC基因型与T2DM遗传易感性有相关性(P<0.05)。TCF7L2基因rs7901695位点与吸烟、饮酒和高甘油三酯在T2DM中未发现存在交互作用。结论 在新疆维吾尔自治区墨玉县维吾尔族人群中，TCF7L2基因rs7901695位点的多态性与T2DM遗传易感性存在相关性，即CC基因型可能会增加T2DM的发病风险。更多还原

【Abstract】 Objective To investigate the relationship between the single nucleotide polymorphism(SNP) site of transcription factor 7 analog 2(TCF7L2) and type 2diabetes mellitus(T2DM), which is the basis for predicting the risk of individual T2DM and early intervention. Methods A retrospective case-control study was conducted. 150 Uygur patients with T2DM in Moyu County Hospital of Xinjiang Uygur Autonomous Region were selected as the case group, and 218 healthy people were selected as the control group. MGB probe was used to detect the genotype of rs7901695 locus of TCF7L2 gene in the two groups, and relevant questionnaires and biochemical indexes were tested. Logistic regression was used to analyze the relationship between genotype and genetic susceptibility of T2DM in different genetic models. Results There were significant differences in fast plasma glucose and low-density lipoprotein cholesterol levels between the two groups(P<0.05). There were no significant differences in the allele and genotype distribution frequencies of the rs7901695 locus of TCF7L2gene between the two groups(P>0.05). Multivariate Logistic regression analysis showed that the rs7901695 locus of TCF7L2gene was correlated with genetic susceptibility to T2DM in both additive and recessive models after adjusting for covariates. No interaction was found between rs7901695 of TCF7L2gene and smoking, drinking and high triglyceride in T2DM. Conclusion In the Uygur population of Moyu County, Xinjiang, the polymorphism of TCF7L2gene rs7901695 was correlated with the genetic susceptibility to T2DM, that is, the CC genotype may increase the risk of T2DM.更多还原