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印度南部人群中糖尿病视网膜病变与IGF-1基因多态性胞嘧啶-腺嘌呤重复序列

Diabetic retinopathy and IGF-1 gene polymorphic cytosine-adenine repeats in a Southern Indian cohort.

作者信息

Uthra Satagopan, Raman Rajiv, Mukesh Bickol N, Rajkumar Samuel A, Kumari R Padmaja, Agarwal Swati, Paul Pradeep G, Lakshmipathy Praveena, Gnanamoorthy Perumal, Sharma Tarun, McCarty Catherine A, Kumaramanickavel Govindasamy

机构信息

SN ONGC Department of Genetics and Molecular Biology, Medical and Vision Research Foundations, Sankara Nethralaya, Chennai, India.

出版信息

Ophthalmic Res. 2007;39(5):294-9. doi: 10.1159/000108124. Epub 2007 Sep 12.

Abstract

BACKGROUND/AIMS: Growth factors have been implicated in the pathogenesis of diabetic retinopathy (DR). IGF-1 is known to trigger a critical cascade of molecular events that initiate retinal angiogenesis. Increased vitreous IGF-1 levels have been correlated with the severity of ischemia-associated diabetic retinal neovascularization. In the present study, a cytosine-adenine (CA)(n) repeat in the promoter of the IGF-1 gene is studied for association with DR.

METHODS

A total of 127 patients with retinopathy (cases: DR+) and 81 patients without retinopathy (controls: DR-) who had type 2 diabetes were recruited for the study. Patients underwent detailed clinical examination and DR was graded based on stereoscopic digital fundus photographs. Frequencies of alleles and genotypes between the two groups were analyzed for significance using relevant statistical tests. (CA)(17) and (CA)(18) repeats were the more frequent alleles.

RESULTS

The frequency of the 18-repeat genotype was significantly higher in DR+ patients when compared to DR- patients and found to confer a 2.4 times (95% CI: 1.2-5.0) and 2.8 times (95% CI: 1.1-7.5) higher risk for developing DR and proliferative DR, respectively, when compared to <18-repeat genotypes.

CONCLUSIONS

Our study suggests that the 18-repeat genotype is a susceptibility genotype for DR and its clinical severity in a Southern Indian cohort.

摘要

背景/目的:生长因子与糖尿病视网膜病变(DR)的发病机制有关。已知胰岛素样生长因子-1(IGF-1)可引发一系列关键的分子事件,从而启动视网膜血管生成。玻璃体中IGF-1水平升高与缺血相关的糖尿病视网膜新生血管形成的严重程度相关。在本研究中,对IGF-1基因启动子中的胞嘧啶-腺嘌呤(CA)(n)重复序列与DR的相关性进行了研究。

方法

本研究共纳入127例患有视网膜病变的患者(病例组:DR+)和81例无视网膜病变的2型糖尿病患者(对照组:DR-)。患者接受了详细的临床检查,并根据立体数码眼底照片对DR进行分级。使用相关统计检验分析两组之间等位基因和基因型的频率差异是否具有统计学意义。(CA)(17)和(CA)(18)重复序列是较常见的等位基因。

结果

与DR-患者相比,DR+患者中18重复基因型的频率显著更高,并且与<18重复基因型相比,发现其发生DR和增殖性DR的风险分别高2.4倍(95%CI:1.2 - 5.0)和2.8倍(95%CI:1.1 - 7.5)。

结论

我们的研究表明,在印度南部人群中,18重复基因型是DR及其临床严重程度的易感基因型。

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