2nd Department of Ophthalmology, University of Athens Medical School, Athens, Greece.
1st Department of Ophthalmology, University of Athens Medical School, Athens, Greece.
Ophthalmic Genet. 2022 Jun;43(3):326-331. doi: 10.1080/13816810.2021.2015787. Epub 2021 Dec 13.
Several genetic polymorphisms have been identified as risk factors for diabetic retinopathy (DR) onset. The purpose of our study was to determine whether ADIPOQ rs1501299 and rs2241766 gene polymorphisms are associated with DR in a cohort of Greek diabetic patients.
218 patients with type-2 diabetes mellitus (T2DM) were included in the study; 109 suffered from DR and 109 not. All the participants underwent a complete ophthalmological examination, while clinical and demographic data were assessed. Furthermore, they were genotyped for G276T (rs1501299) and T45G (rs2241766) single nucleotide polymorphisms of ADIPOQ gene.
Between the studied groups, no significant differences were detected regarding the demographic and clinical data ( > .05 for all), except for hemoglobin A1c levels and frequency of insulin treatment (higher in DR patients). We detected that the frequency of rs1501299 GT genotype was significantly elevated in DR patients (53% vs. 34%, = .004) and was associated with a higher risk of developing retinopathy (OR 2.31, 95% CI 1.30-4.11). Furthermore, we demonstrated that the rs1501299 GT genotype was significantly and independently associated with increased odds for DR development in diabetic subjects (OR 2.68, 95% CI 1.38-5.21, = .004), regardless of the impact of other known risk factors.
We documented that rs1501299 GT genotype could be recognized as an independent risk factor of retinopathy in T2DM Greek patients, while no role for rs2241766 polymorphism was identified. Further research in different ethnic groups will clarify the exact association of these polymorphisms with the risk of DR development.
一些遗传多态性已被确定为糖尿病视网膜病变（DR）发病的危险因素。我们的研究目的是确定 ADIPOQ 基因 rs1501299 和 rs2241766 基因多态性是否与希腊糖尿病患者的 DR 有关。
本研究纳入 218 例 2 型糖尿病（T2DM）患者；109 例患有 DR，109 例未患有 DR。所有参与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，他们还对 ADIPOQ 基因的 G276T（rs1501299）和 T45G（rs2241766）单核苷酸多态性进行了基因分型。
在所研究的组之间，除了血红蛋白 A1c 水平和胰岛素治疗的频率（DR 患者更高）外，人口统计学和临床数据无显著差异（所有均>.05）。我们发现，DR 患者 rs1501299 GT 基因型的频率明显升高（53%比 34%， = 0.004），并且与发生视网膜病变的风险增加相关（OR 2.31，95%CI 1.30-4.11）。此外，我们证明，无论其他已知危险因素的影响如何，rs1501299 GT 基因型与糖尿病患者发生 DR 的几率显著增加独立相关（OR 2.68，95%CI 1.38-5.21， = 0.004）。
我们记录到 rs1501299 GT 基因型可被认为是希腊 T2DM 患者视网膜病变的独立危险因素，而 rs2241766 多态性则没有作用。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 DR 发展风险的确切关联。
