山梨醇脱氢酶基因多态性与2型糖尿病视网膜病变相关性的研究

摘要

背景 国外研究表明,多元醇通路在2型糖尿病血管并发症中具有重要的作用,山梨醇脱氢酶(SDH)基因作为该通路的限速酶之一参与糖尿病视网膜病变(DR)的发生,但国内尚未见相关的研究.目的 探讨SDH G-888C基因多态性同2型DR的关系.方法 运用聚合酶链反应-限制性片段长度多态性技术检测187例2型糖尿病患者的基因型,其中DR患者118例,无明显DR组69例、健康对照组123例,比较各组的基因型和等位基因的频率.结果 DR组与无DR组间的临床特征比较显示,DR组糖尿病病程明显长于无DR组,差异有统计学意义(t=2.070,P=0.042),2组间其他基线特征的差异无统计学意义(P>0.05).DR组、无DR组和对照组GG基因型频率分别为24.6%、8.7%和8.1%,G等位基因频率分别为42.4%、25.4%和29.7%,DR组GG基因型和G等位基因频率显著高于无DR组和对照组,差异均有统计学意义(GG:P=0.007,P=0.001;G:P=0.001,P=0.004),无DR组与对照组的各基因型和等位基因频率比较差异均无统计学意义(P>0.05);增生型DR与无DR组间各基因型和等位基因频率比较差异均无统计学意义(P>0.05).结论 SDH G-888C基因多态性可能与中国南方人群2型DR的发生具有一定的相关性.%Background Some aboard studies showed that polyatomic pathway play an important role in the microsvasculopathy of type 2 diabetes,and sorbitol dehydrogenase (SDH) gene is involved in the pathogenesis of diabetic retinopathy(DR).There is no relevant research at home up to now.Objective This study was to investigate the correlation of sorbitol dehydrogenase (SDH) G-888C gene polymorphism with diabetic retinopathy (DR) in type 2 diabetes mellitus.Methods The SDH genotypes were determined by polymerase chain reactionreaction fragment length polymorphism (PCR-RFLP) in 187 patients with diabetes and 123 normal contrels.Patients were divided into two groups depending on the presence or absence of DR(DR:n=118;NDR:n=69).The frequencies of SDH genotype and allele were assayed and compared among these groups.This study was approved by Ethic Committee of Guangdong General Hospital.Written informed consent was obtained from each individual prior to any relevant medical procedure.Results The disease course in the DR group was significantly longer than that in NDR group(t=2.070,P=0.042),and other clinical features in both groups were non-significant (all P>0.05).The genotype frequencies in the DR group,NDR group and normal control group were 24.6%,8.7% and 8.1%,respectively,and frequencies of the G allele were 42.4%,25.4% and 29.7%,showing statistically significant differences among these three groups.The GG genotype and G allele frequencies were significantly higher in the DR group than those in the NDR group and normal control group (GG:P=0.007,P=0.001;G:P=0.001,P=0.004).There were no significant differences in the frequencies of the GG genotype and G allele between the NDB group and normal control group ( P>0. 05) as well as the proliferative DR group and non-proliferative DR group (P>0.05).Conclusion SDH G-888C gene polymorphism is associated with the development of diabetic retinopathy in southern Chinese.