回\汉两民族2型糖尿病视网膜病醛糖还原酶基因启动子区C(-106)T多态性的比较(1)
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[摘要] 目的：探讨甘肃地区回族及汉族人群醛糖还原酶基因启动子区C(-106)T多态性与糖尿病视网膜病的关系以及该多态性在两民族间的差异。方法：应用PCR-RFLP技术检测81例汉族2型糖尿病患者和83例健康汉族对照者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：①ALR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CT/TT基因型及T等位基因频率较无糖尿病视网膜病组均高，但差异无统计学意义；糖尿病视网膜病组T等位基因及CT/TT基因型分布频率明显高于正常对照组，差异有统计学意义。相对危险度分析发现，CT/TT基因型患糖尿病视网膜病的风险是CC基因型的2.127倍；携带T等位基因患糖尿病视网膜病的风险是C等位基因的1.962倍。②在回、汉两民族2型糖尿病患者中进行比较，回族CT/TT基因型及T等位基因均高于汉族，但是差异无统计学意义。结论：在甘肃地区回、汉两民族人群中都存在ALR基因启动子区C(-106)T多态性，且该位点多态性在两民族间无显著性差异。CT/TT基因型和T等位基因可能与回、汉两民族糖尿病视网膜病的发生相关。
[关键词] 醛糖还原酶；基因多态性；糖尿病视网膜病；多态性
[中图分类号] R587.1 [文献标识码]A[文章编号]1674-4721(2011)05(c)-030-03
The difference of C(-106)T polymorphism of the Aldose Reductase gene between diabetic retinopathy in Han and Hui population
YIN Hong, ZHANG Yingli, XIN Yan, CHEN Huaqin, PU Huali
Department of Endocrinology, the First People′s Hospital ofLanzhou City, Gansu Province, Lanzhou 730050, China
[Abstract] Objective: To investigate the Aldose Reductase gene polymorphism in Han population and Hui population in Gansu province and its association withtype 2 diabetes mellitus (T2DM). Methods: Genotype of Aldose Reductase was determined in patients with type 2 DM and healthy controls by PCR- RFLP. Plasma glucose, insulin and HbA1c levels were measured by biochemical technique. Results: ①There were no significant differences in genotypic or allelic distribution in patients with or without type 2 diabetic mellitus in Han population；The frequencies of T allele and CT/TT genotype of the ALR gene in dianbetic retinopathy group was higher than the group without diabetic retinopathy,but there were no significant differences; There were significant difference in frequencies of T allele and CT/TT genotype between DR group and control group, the relative risk of CT/TT genotype and T allele suffered from DR were 2.127 times and 1.962 times of the CC genotype respectively. ②There were no significant differences in genotypic or allelic distribution in T2DM patients between Han and Hui populations. Conclusion: A polymorphism C(-106)T at 5′regulatory region of Aldose Reductase gene is found both in Han and Hui populations in Gan Su province, and no difference between two groups for frequency of CC, CT, TT genotypes and C, T allele ......
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