醛糖还原酶基因启动子区C（-106）T多态性与2型糖尿病视网膜病的相关性

目的 探讨醛糖还原酶（ALR）基因启动子区C（-106）T多态性在甘肃地区回族人群中的分布及其与糖尿病视网膜病的关系.方法 应用PCR-RFLP技术检测67例2型糖尿病患者和70例健康对照者ALR的基因型,分别以氧化酶法、放免法、比色法测定空腹血糖、空腹胰岛素、糖化血红蛋白水平.结果 ALR基因C（-106）T多态各基因型及等位基因分布频率在对照组和2型糖尿病组间差异无统计学意义;糖尿病视网膜病组T等位基因分布频率明显高于无糖尿病视网膜病组,等位基因相对危险度分析发现,携带T等位基因的2型糖尿病患者发生糖尿病视网膜病的风险是C等位基因的2.262倍.结论 在甘肃地区回族人群中存在ALR基因启动子区C（-106）T多态性,且T等位基因可能与糖尿病视网膜病的发生相关.

Association of C(-106)T polymorphism of the aldose reductase gene with susceptibility to diabetic retinopathy

Objective To investigate the aldose reductase gene polymorphism in Hui population in Gansu province and its association with diabetic retinopathy（DR）.Methods Genotype of aldose reductase was determined by PCR-RFLP.Plasma glucose,insulin and HbA1c levels were measured by biochemical technique.Results There were no significant differences in genotypic or allelic distribution in patients with or without type 2 diabetic mellitus; The frequencies of T allele in diabetic retinopathy group was significant higher than that in the group without diabetic retinopathy,the relative risk of T allele suffered from DR were 2.262 times of the CC genotype.But the genotype was not significant differences between two groups.Conclusions A polymorphism C（-106）T at 5＇ regulatory region of aldose reductase gene was found Hui populations in Gansu province.The T allele of the ALR gene might be a genetic marker of susceptibility to diabetic retinopathy.