醛糖还原酶基因启动子区C(-106)T多态性与2型糖尿病视网膜病变的相关性  

The Relationship between the T Polymorphisms of Aldose Reductase Gene Promoter Region and Diabetic Retinopathy

作　　者：汪玮琳[1] 于德民[1] 刘德敏[1] 谢云[1] 

机构地区：[1]天津医科大学代谢病医院,天津300070

出　　处：《中国慢性病预防与控制》2006年第4期238-240,共3页Chinese Journal of Prevention and Control of Chronic Diseases

基　　金：天津市自然科学基金资助项目(023611211)

摘　　要：目的探讨AR基因启动子区C(-106T)多态标记与中国人2型糖尿病患者视网膜病变之间的关系。方法421例中国北方汉族人[2型糖尿病组(DM)320例,其中123例合并背景期视网膜病变B(DR),45例合并增殖期视网膜病变(PDR);健康对照组C(ON)101例]提取外周血DNA设计引物,PCR扩增含AR基因调控区多态标记的目的片断,以限制性内切酶XspI行酶切RFLP分析。比较各组间等位基因频率和基因型频率。结果在2型糖尿病和对照组中均检测到AR基因C(-106T)多态标记,CC、CT、TT3种基因型和C、T2种等位基因;各基因型和等位基因频率在DM组和CON组间分布无统计学意义。BDR组和PDR组患者与无视网膜病变的2型糖尿病组(NDR)相比,CTT/T基因型、T等位基因频率明显增加。结论AR基因启动子区C(-106T)Objective To investigate the relationship between the C （- 106）T polymorphisms of AR gene and the susceptibility of retinopathy in type 2diabetes. Methods A case-control study for 421Chinese subjects （including 320 type 2 diabetes mellitus, 123 with retinopathy and 101 non-diabetes control） was performed. The PCR-RFLP techniques were performed to screen the polymorphisms of C（-106）T at 5 ＇-regulatory region of AR gene. The difference of frequency in alleles and genotypes were compared between groups. Results A polymorphism C （-106）T was found both in type 2 diabetes mellitus and controls, and no difference between two groups for the frequency of C allele, T allele, and the C/C,C/T,T/T genotypes. In type 2 diabetes mellitus with retinopathy, the frequency of C/T genotypes and T allele were higher than those in type 2 diabetes mellitus without retinopathy. Conclusion The C（-106）T polymorphism at 5 ＇-regulatory region of AR gene contributes to the development and progression of diabetic retinopathy in type 2 diabetes mellitus.

关 键 词：糖尿病 2型 醛糖还原酶 视网膜病 基因多态性 

分 类 号：R587.1[医药卫生—内分泌]