Studies have demonstrated that polymorphic variants of arginase 1 gene (ARG1) are involved in human diseases, such as coronary heart disease, hypertension, and diabetes. Our study aimed to investigate the association between ARG1 rs2781666 single nucleotide polymorphism (SNP) and diabetic retinopathy (DR) in type 2 diabetes (T2DM) patients. Polymorphism was genotyped in 740 T2DM patients and 400 healthy individuals. A significant difference in the genotype distribution was observed between the patients and the controls. The T allele and TT genotype were associated with an increased risk of T2DM (OR 1.4, 95% CI 1.14-1.72, p = 0.001 and OR 2.16, 95% CI 1.23-3.80, p = 0.007, respectively). When the T2DM subjects were stratified into DR+ and DR- subgroups, the T allele and TT genotype frequencies were significantly higher in the DR+ group compared to the DR- group, demonstrating OR 1.68 (1.33-2.12), p < 0.0001 and OR 2.39 (1.36-4.18), p = 0.002, respectively. Logistic regression analysis was applied to determine the interaction between the ARG1 genotypes and other risk factors. Only ARG1 rs2781666 SNP was a significant risk predictor of DR (p = 0.003). In conclusion, this is the first report discussing the effect of ARG1 polymorphism on the microvascular complications that are associated with diabetes. Our findings demonstrate that ARG1 rs2781666 SNP is significantly associated with an increased susceptibility to DR in T2DM patients.
Keywords: arginase 1; diabetic retinopathy; genotyping; rs2781666; single nucleotide polymorphism.