2nd Department of Ophthalmology, University of Athens Medical School, 69038Attikon Hospital, Athens, Greece.
1st Department of Ophthalmology, University of Athens Medical School, G. Gennimatas Hospital, Athens, Greece.
Eur J Ophthalmol. 2022 Sep;32(5):2582-2588. doi: 10.1177/11206721211054724. Epub 2021 Nov 13.
To investigate whether eNOS T786C (rs2070744) and G894T (rs1799983) gene polymorphisms are associated with diabetic retinopathy in Greek diabetic patients.
271 patients with type-2 diabetes mellitus participated in our study; 130 suffered from diabetic retinopathy and 141 not. All the patients underwent a complete ophthalmological examination, while clinical and demographic data were assessed. Furthermore, they were genotyped for rs2070744 and rs1799983 single nucleotide polymorphisms of eNOS gene.
Regarding the clinical and demographic data, no significant differences were detected between the studied groups, except for hemoglobin A1c levels and the frequency of insulin treatment (higher in patients with diabetic retinopathy). The frequency of rs1799983 GT genotype was significantly elevated in patients with diabetic retinopathy (55% vs. 40%, = 0.011) and was associated with a 2-fold increased risk of developing retinopathy (OR 1.92, 95% CI 1.16-3.17). Furthermore, we demonstrated that the aforementioned genotype was significantly and independently associated with increased odds for retinopathy onset in diabetic subjects (OR 2.23, 95% CI 1.28-3.90, = 0.005), regardless of the impact of other confounders.
We documented that rs1799983 GT genotype could be recognized as an independent risk factor of retinopathy in Greek patients with type-2 diabetes mellitus, while no role for rs2070744 polymorphism was identified. Further research in different ethnic groups will clarify the exact association of these polymorphisms with the risk for diabetic retinopathy development.
研究内皮型一氧化氮合酶（eNOS）基因 T786C（rs2070744）和 G894T（rs1799983）基因多态性是否与希腊糖尿病患者的糖尿病视网膜病变有关。
271 例 2 型糖尿病患者参与了本研究；其中 130 例患有糖尿病视网膜病变，141 例未患有糖尿病视网膜病变。所有患者均接受了全面的眼科检查，同时评估了临床和人口统计学数据。此外，还对他们的 eNOS 基因 rs2070744 和 rs1799983 单核苷酸多态性进行了基因分型。
在临床和人口统计学数据方面，除了糖化血红蛋白水平和胰岛素治疗频率（糖尿病视网膜病变患者较高）外，两组间无显著差异。糖尿病视网膜病变患者 rs1799983 GT 基因型的频率显著升高（55%对 40%，=0.011），并与发生视网膜病变的风险增加 2 倍相关（OR 1.92，95%CI 1.16-3.17）。此外，我们还证明，无论其他混杂因素的影响如何，上述基因型与糖尿病患者视网膜病变发病的风险显著独立相关（OR 2.23，95%CI 1.28-3.90，=0.005）。
我们记录到 rs1799983 GT 基因型可被视为希腊 2 型糖尿病患者视网膜病变的独立危险因素，而 rs2070744 多态性则无此作用。在不同的种族群体中进行进一步的研究将阐明这些多态性与糖尿病视网膜病变发展风险的确切关联。
