三基因单核苷酸多态性与汉族人群2型糖尿病的相关性研究

目的：研究rs3923113-GRB14，rs1802295-VPS26A，rs7178572-HMG20A三基因单核苷酸多态性（SNPs）与2型糖尿病（T2DM）及相关代谢指标的相关性。方法：用高分辨率溶解曲线（HRM）小片段基因分型方法检测300例T2DM者及300例健康体检者3SNP位点基因型及等位基因频率分布。结果：各SNP基因型分布符合遗传平衡定律。rs231362（KCNQl）的风险基因C患病风险是T等位基因的1．058倍（P=0．012，OR=1．058，95％CI：1．012-1．106）。rs231362（KCNQl）的3种基因型（TT、CT、CC）在T2DM组与对照组中的分布频率分别为0．7％、19．9％、75．6Voo和2．7％、25．6％、71．7％，2组基因型分布差异有统计学意义（P=0．031）。该位点在其隐性模型中（CCVSCT＋TT），2组差异有统计学意义（P=0．028，OR=1．11，95％CI：1．01～1．22）。rs3923113-GRBl4、rs7178572-HMG20A基因型分布在病例组与对照组中未见显著性差异。我们分析了对照组血糖血脂与各SNP位点基因型之间的关系，rs3923113在显性模型（TT＋GT）／GG]下TT＋GT组总胆固醇（Tc）值低于GG组；TT＋GT组高密度脂蛋白（HDL-C）1．07（0．90-1．19）mmol／L低于GG组1．21（1.02-1．41）mmol／L，P值分别为0．017与0．036。结论：rs231362-KCNQl可能与中国人群T2DM发病有关。rs3923113-GRBl4与TC及HDL-C升高有关。

Association study on three genes single nucleotide polymor-phisms and Type 2 diabetes mellitus

Objective： To investigate the relationship between single nucleotide polymorphism （SNPs） of rs3923113 ,rs1802295 ,rs7178572 and type 2 diabetes （T2DM） and related quantitative traits. Method：Three genes genotypes were detected by high-resolution melting （HRM） in 300 T2DM patients and 300 controls. Result：There were no significant difference in genotype distributions of the rs3923113 on GRB14gene and the rs7178572 on HMG20A gene. The rs231362 on KCNQ1 gene was found to be associated with T2DM. And the triglyceride levels were higher,while the high-density lipoprotein cholesterol was lower in TT and GT carriers than GG carriers of rs3923113. Conclusion：The rs231362 may be associated with T2DM in the Chinese population,and the rs3923113 may be associated with lipid metabolism disorders.