Ramzi Amin, Faika Novadianaz, Yuwono Yuwono, H. Permana, A. Kartasasmita, D. Hilmanto
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引用次数: 0
摘要
山梨糖醇脱氢酶(SORD)酶有2个启动子区域,多态性位点在-1214 G> G (rs2055858)和-888 G>C (rs3759890),这两个启动子区域完全不平衡,与糖尿病患者视网膜细胞的基因表达有关,更有可能在糖尿病视网膜病变(DR)的发病机制中发挥作用。SORD -888G >c基因型在日本DR患者中比在无并发症患者中更常见。在糖尿病(DM) 2型患者中观察到DR与-888G>C多态性中的G等位基因之间的关系。本研究旨在阐明南苏门答腊岛马来人群中SORD -888 G>C基因多态性与DR发病的关系。这是一项病例对照研究。在印度尼西亚南苏门答腊岛巨港的Dr. Mohammad Husein中央综合医院眼科诊所接受直接眼科镜检查和眼底成像的马来2型糖尿病患者是本研究的对象。从血样中分离患者DNA,进行PCR分析和测序,以确定SORD -888 G>C基因的多态性频率。结果显示,所有受试者在SORD -888 G>C基因启动子中均为GG基因型。南苏门答腊马来人原生群中sold -888G >c基因无明显多态性。
The Relationships between SORD -888G>C Gene Polymorphism and Diabetic Retinopathy in a South Sumatran Malay Population
The sorbitol dehydrogenase (SORD) enzyme has 2 promoter regions with polymorphisms at -1214 C>G (rs2055858) and -888 G>C (rs3759890), which have a complete imbalance, related to gene expression in retinal cells of diabetic patients, and more likely to have a role in diabetic retinopathy (DR) pathogenesis. The SORD -888G>C genotype occurs more often in Japanese DR patients than in patients without complications. A relationship between DR and the G allele in -888G>C polymorphism is observed in Diabetes Mellitus (DM) type-2 patients. This study aims to elucidate the relationship between the SORD -888 G>C gene polymorphism to the occurrence of DR cases in Malay population in South Sumatra. This is a case-control study. Malay DM type-2 patients who undergo direct ophthalmoscopy and fundus imaging in the Dr. Mohammad Husein Central General Hospital eye clinic in Palembang, South Sumatra, Indonesia were the subjects of this study. Patient DNA was isolated from blood samples, PCR analyzed and sequenced in order to determine the polymorphism frequencies of the SORD -888 G>C gene. The results showed that every subject had GG genotype in SORD -888 G>C gene promoter. There was no observable polymorphism in SORD -888G>C gene in the authentic Malay population in South Sumatra.