Gene polymorphism of C106T “rs759853” is not associated with diabetic retinopathy in Egyptian patients with type 2 diabetes mellitus

Abstract Introduction DR is the most severe and sight-threatening diabetic microvascular complication. DR is the main cause of blindness worldwide. Genetic factors play an important role in the development of DR. Therefore, the present study aimed to investigate the association of aldose reductase (AR) C106T (rs759853) gene polymorphism with the risk of DR in type 2 DM (T2DM) in the Egyptian population. Methods This study was performed on 280 subjects, including 120 T2DM without DR and 160 T2DM with DR patients. DNA was extracted from the whole blood and the genotyping of the rs759853 was determined, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results Genotype frequencies of the rs759853 polymorphism were consistent with Hardy–Weinberg equilibrium (HWE). Genotype frequencies were 55.0%, 37.5% and 7.5% for CC, CT and TT; respectively in T2DM with DR group. While the frequencies in T2DM without DR 46.7%, 40% and 13.3% for CC, CT and TT; respectively. Multiplicative, dominant and recessive models showed no significant associations between C106T (rs759853) studied SNPs and development of DR within T2DM. There were no significant differences in creatinine, FBG and HbA1c concentrations between genotypes of AR in T2DM groups (with and without DR) (P > 0.05 for each). In T2DM without DR, there were significant different between level of total cholesterol and AR genotype. Logistic analysis confirmed that HbA1c and duration of diabetes were associated with the risk of DR, while AR (rs759853) had no significant role in development of DR. Conclusion The present study investigated the association of HbA1c and duration of diabetes with development of DR, while excluded the role of C106T rs759853 polymorphism in conferring risk of DR. Furthermore, this polymorphism was not independent genetic risk factors for DR in Egyptian population. However, other SNPs within this gene might influence the risk of DR. So future genotyping of other functional variants within this gene are necessary to unravel the role of aldose reductase in DR.