醛糖还原酶基因多态性与2型糖尿病视网膜病变的关系

Relationship between polymorphisms of aldose reductase gene and type 2 diabetic retinopathy

目的：探讨醛糖还原酶（ AR）基因启动子-106 C/T多态性与糖尿病视网膜病变（ DR）的关系。方法提取161例并发DR的2型糖尿病患者（病例组）和213例未并发DR的2型糖尿病患者（对照组）的DNA，PCR反应扩增含-106 bp位点的DNA片段，限制性内切酶BfaⅠ酶切，测定-106 C/T基因多态性。结果病例组AR基因CC型和C等位基因频率分别为53．42％、71．12％，高于对照组的39．91％、36．15％（P均＜0．05）。单因素Logistic回归分析结果显示，AR基因型中的CT/TT与DR发病有关（OR＝0．579，95％CI：0．383～0．876）。携带T等位基因的糖尿病患者发生DR的危险性降低（OR＝0．717，95％CI：0．525～0．980）。结论 AR基因启动子-106 C/T多态性与DR发病有关，携带T等位基因和CT/TT基因型的2型糖尿病患者发生DR的危险性降低。

Objective To study the relationships between polymorphisms of aldose ruedctase （ AR） gene and diabetic retinopathy （ DR） among the patients with type 2 diabetes mellitu .Methods There were 161 patients with type 2 diabetic retinopathy （ case group ） and 213 patients without diabetic retinopathy （ control group ） included in this study .DNA in all patients of two groups were extracted to test the polymorphisms of AR gene -106bpC/T by polymerase chain reaction （PCR） method.PCR products were digested with restriction enzyme Bfa I .Results The frequency of CC genotype in case group （53.42%） was higher than that of control group （39.91%）（P〈0.05）.The frequency of C allele of AR gene in case group （71.12%） was higher than that of control group （36.15%）（P〈0.05）.CT/TT genotype of AR gene was associat-ed with the incidence of DR（OR=0.579, 95%CI：0.383-0.876）.Type 2 diabetic patients with T allele of AR gene had low risk of diabetic retinopathy （OR=0.717, 95%CI：0.525-0.980）.Conclusions The genetic polymorphism of AR C （-106 ） T is significantly associated with susceptibility of diabetic retinopathy .Type 2 diabetic patients with allele T and CT/TT genentype of AR has a lower risk of DR .