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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。
Objective To investigate the relationship between single nucleotide polymorphism of TCF7L2 gene and genetic susceptibility to type 2 diabetes in Han nationality. Methods There were 1535 Han unrelated people in Jiangsu province, which were divided into T2DM, IGT and NGT groups. LDR was used to detect the rs7903146 (C / T) and rsl2255372 (G / T) single nucleotide polymorphisms. Results (1) The frequency of T allele at rs7903146 in T2DM and IGT groups was higher than that in NGT group, but the difference was not statistically significant. (2) The frequencies of CT genotype and T allele in rs7903146 (P <0.05). The relative risk of T allele involved in abnormal glucose metabolism was 1.589, and the risk of population attribution was 2.1%. Conclusion Single nucleotide polymorphism (SNP) distribution of TCF7L2 gene has obvious race heterogeneity. T mutation at rs7903146 locus may be one of the genetic factors of abnormal glucose metabolism in Chinese Han population.