Objective: To investigate the relationship of TOX, SMAD3 gene single nucleotide polymorphisms (SNPs) and microvascular complications of type 2 diabetes in Han Chinese. Methods: 1 090 Han Chinese type 2 diabetes (T2D) patients were recruited from the Tianjin area, including 615 subjects with diabetic nephropathy (DN), 377 with diabetic retinopathy (DR), 157 patients with both DN and DR, and 165 with a >10 year history of diabetes without DN or DR. 23 SNPs in 14 candidate genes were genotyped by Ulumina Human Omni2.5 -Quad. Discrete association studies were performed by PLINK. Results: Significant associations were found among TOX (rsl526167, P= 0.001), SMAD3 (rs12102171, P= 0.024) SNPs and affection statuses of diabetic microvascular complications. Conclusion: Polymorphisms of TOX and SMAD3 genes are associated with DN and retinopathy in Han Chinese T2D patients. The results suggest that the genetic background of diabetic microvascular complications could be different from T2D itself.%目的:初步探讨TOX和SMAD3基因多态性与中国汉族人群2型糖尿病患者微血管病变(包括糖尿病肾病和糖尿病视网膜病变)的易感性.方法:选取久居天津、彼此之间无血缘关系的汉族2型糖尿病患者1 090名,其中包括糖尿病肾病患者615人,糖尿病视网膜病变患者377人；同时罹患糖尿病肾病和视网膜病变者157人,糖尿病病程超过10年但无微血管病变者165人.对14个候选基因的23个单核苷酸多态性(SNPs)位点进行基因分型,以PLINK软件进行二分变量的关联分析.结果:TOX基因的SNP位点rs1526167(P=0.001)和SMAD3基因的SNP位点rs12102171 (P=0.024)均与2型糖尿病患者的微血管病变相关.结论:TOX和SMAD3基因多态性与中国汉族人群2型糖尿病患者微血管病变的易感性相关,提示糖尿病微血管病变的遗传背景与糖尿病的遗传背景不同.
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