中文摘要：

目的研究TCF7L2和KCNQl基因多态性与2型糖尿病（type 2 diabetes mellitus, T2DM ）的关联，并探讨基因-环境之间的交互作用。方法采用以社区为基础的病例对照研究方法，在北京市房山区选取349例T2DM患者和300例对照，采用单碱基延伸方法对研究对象的基因型进行检测，运用广义多因子降维法 generalized muhifactor dimensionality reduction,GMDR）分析基因-环境交互作用。结果Logistic回归分析结果显示，TCFTL2基因rs12255372位点GT基因型个体患T2DM的风险是GG基因型个体的2．049倍（OR=2．049，95％CI：1．107～3．792），KCNQ1基因rs2237892位点CC基因型个体患T2DM的风险是TT基因型个体的2．619倍（OR=2．619，95％CI：1．60％-4．263），rs2237897位点CC基因型个体患T2DM的风险是TT基因型个体的3．066倍（OR=3．066，95％CI：1．870～5．029），饮酒者患T2DM的风险是不饮酒者的2．749倍（OR=2．749，95％CI：1．753～4．311）。GMDR分析结果显示，饮酒-rs2237892-rs2237897-rs12255372模型的验证样本准确度（0．6572）和交叉验证一致性（10／10）均最高。结论在本次调查的人群中，TCF7L2、KCNQ1基因多态性与T2DM存在关联，KCNQ1基因rs2237892、rs2237897位点、TCF7L2基因rs12255372位点与饮酒因素对T2DM发病存在交互作用。

英文摘要：

Objective To understand the relationship between the KCNQ1, TCFTL2 gene polymorphism and the susceptibility of T2DM in Chinese population, and to explore the gene-environmental interaction. Methods A community-based case-control study was conducted in Fangshan district of Beijing.A total of 349 patients with T2DM and 300 controls were finally chosen into the study. The single nucleotide primer extension method was employed for genotyping. Generalized multifactor dimensionality reduction （GMDR） method was used to evaluate gene-environmental interactions. Results Compared with the GG genotype, risk for individuals with GT genotype of rs12255372 site （TCF7L2 gene） suffering from T2DM was 2.049 times higher （OR=2.049,95%CI： 1.107-3.792）. Compared with the TT genotype, risk for individuals with CC genotype of rs2237892 site （KCNQ1 gene） suffering from T2DM was 2.619 times higher （0R=2.619,95%CI：1.609-4.263）. Compared with the TT genotype, risk for individuals with CC genotype of rs2237897 site （KCNQ1 gene） suffering from T2DM was 3.066 times higher （OR=3.066,95%CI： 1.870-5.029）. Compared with non-drinkers, risk for drinkers suffering from T2DM was 2.749 times higher （OR=2.749,95%CI： 1.753-4.311）. Drinking-rs2237892-rs2237897-rs12255372 model showed the highest accuracy （0.657 2） and the highest cross-validation consistency （10/10） after GMDR analysis. Conclusion TCFTL2 and KCNQ1 gene polymorphism are associated with the susceptibility of T2DM. There is interaction among KCNQ1 gene（rs2237892, rs2237897）, TCF7L2 gene（ rs1255 372 ） and drinking.