Background

Diabetic retinopathy (DR) is one of the most common diabetic complications. Genetic factors play an important role in the development and progression of DR. So, the present study aimed to investigate the association of TCF7L2 (rs7903146) gene polymorphism with the risk of DR in type1 and type2 DM (T1DM and T2DM) in the Egyptian population.

Materials and Methods

This work is a case-control study in which 550 diabetic patients were enrolled. Among them, 280 diabetics with DR (120 T1DM and 160 with T2DM) and 270 diabetic patients without DR (120 T1DM and 150 with T2DM). Besides, 120 healthy subjects as a control group. Genotyping of TCF7L2 (rs7903146) (C/T) was done following DNA extraction using polymerase chain reaction-restriction fragment length polymorphism.

Results

C allele and CC genotype of TCF7L2 (rs7903146) were significantly associated with increased risk for DR within T2DM in multiplicative and recessive models. While dominant model showed no significant association with DR. Although TC may be associated with a decreased risk for DR in T1DM and T2DM in over dominant model, there was no significant association of TCF7L2 (rs7903146) with the risk of DR susceptibility within T1DM in multiplicative, dominant, and recessive models.

Conclusion

The present study revealed the association of TCF7L2 (rs7903146) polymorphism with DR susceptibility within diabetic patients. Therefore, TCF7L2 (rs7903146) gene polymorphism may have a prognostic value for diabetic retinopathy in the Egyptian population. Further work is required to confirm the association of this polymorphism as a risk for DR.

中文翻译：

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转录因子7样2（rs7903146）基因多态性与糖尿病性视网膜病变的关联。

背景

糖尿病性视网膜病（DR）是最常见的糖尿病并发症之一。遗传因素在DR的发生和发展中起着重要作用。因此，本研究旨在调查TCF7L2（rs7903146）基因多态性与埃及人群1型和2型DM（T1DM和T2DM）中DR风险的相关性。

材料和方法

这项工作是一项病例对照研究，其中招募了550名糖尿病患者。其中，280例患有DR的糖尿病患者（120例T1DM和160例T2DM）和270例无DR糖尿病患者（120例T1DM和150例T2DM）。此外，将120名健康受试者作为对照组。TCF7L2（rs7903146）（C / T）的基因分型是在DNA提取后使用聚合酶链反应-限制性片段长度多态性进行的。

结果

在乘法和隐性模型中，TCF7L2的C等位基因和CC基因型（rs7903146）与T2DM中DR的风险增加显着相关。优势模型显示与DR无明显关联。尽管在显性模型中，TC可能与T1DM和T2DM中DR的风险降低相关，但在乘法，显性和隐性模型中，TCF7L2（rs7903146）与T1DM中的DR易感性风险没有显着关联。

结论

本研究揭示了糖尿病患者中TCF7L2（rs7903146）多态性与DR易感性的关系。因此，TCF7L2（rs7903146）基因多态性可能对埃及人群的糖尿病性视网膜病变具有预后价值。需要进一步的工作来确认这种多态性与DR风险有关。