【摘要】 目的探讨TCF7L2基因单核苷酸多态性与汉族人2型糖尿病遗传易感性的关系。方法无血缘关系江苏地区汉族人1535例,分为2型糖尿病组(T2DM)、糖耐量减低组(IGT)和正常糖耐量组(NGT),LDR法检测TCF7L2基因rs7903146(C/T)及rsl2255372(G/T)单核苷酸多态性。结果(1)T2DM、IGT组rs7903146位点T等位基因频率均高于NGT组,但差异无统计学意义;(2)糖代谢异常组rs7903146位点CT基因型频率及T等位基因频率则显著高于NGT组(P均<0.05),T等位基因参与糖代谢异常发生的相对风险为1.589,人群归因危险度为2.1%。结论 TCF7L2基因单核苷酸多态分布存在明显的种族异质性,rs7903146位点T突变可能是中国汉族人群糖代谢异常发生的遗传因素之一。更多还原

【Abstract】 Objective To identify the association between single nucleotide polymorphism (SNP) of transcription factor 7-like 2 (TCF7L2) and genetic susceptibility of type 2 diabetes in Han Chinese people. Methods 1 535 unrelated Han Chinese people in Jiangsu Province were divided into three groups: type 2 diabetes group (T2DM) of 682 patients, impaired glucose tolerance group (IGT) of 302 patients and normal glucose tolerance group (NGT) of 551 people. SNPs rs7903146 (C/T) and rsl2255372 (G/T) of TCF7L2 were determined by ligase detection reaction (LDR). Results The T allele of rs7903146 was more frequent in T2DM (3.6%) and IGT (3.5%) than in NGT (2.3%) but without significant difference (T2DM vs NGT:χ~2= 3.670, P = 0.055; IGT vs NGT:χ~2=2.717, P = 0.141). However, compared with NGT, patients with glycometabolic abnormality (GA) of T2DM and IGT had significantly more frequent CT genotype (χ~2= 4.039, P = 0.044) and T allele of rs7903146 (χ~2= 3.910, P = 0.048). The presence of T allele was associated with GA (odds ratio =1.589, 95% CI, 1.000-2.524) with population attributable risk percentage (PAR) of 2.1%. Conclusions There are different ethnic distributions of SNPs of TCF7L2.T allele of rs7903146 might be one of the genetic factors contributing to glycometabolic abnormality in Han Chinese people.更多还原