Polymorphism analysis of ADIPOQ gene in Greek patients with diabetic retinopathy

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 (p > .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%, p = .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, p = .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.