Aldose reductase (-106) C/T gene polymorphism and associated risk factors with proliferative diabetic retinopathy in...

Genetic variants play a crucial role in the development of diabetic retinopathy (DR). Therefore, our study aimed to investigate the relationship between aldose reductase (ALR2) (C106T) polymorphism with proliferative DR and associated risk factors in Palestinian type 2 diabetic patients.

A cross sectional study was conducted at St John Eye Hospital-East Jerusalem in 2020-2021 on patients with DR. All subjects had fundus examination by ophthalmologists and classified according to the severity of retinopathy. Genomic DNA was extracted from whole blood samples and genotyped by amplicon based next generation sequencing.

A total of 155 patients were included, of them, 103 (66.5%) were diagnosed with non-proliferative DR (NPDR) and 52 (33.5%) with proliferative DR (PDR). The PDR group had a significantly lower median age (59.5 [IQR: 13.3]) compared to the NPDR group (62 [IQR: 11.5]) (p = 0.04). Additionally, the duration of diabetes was higher in the PDR group (20 [IQR: 9]) compared to the NPDR group (15 [IQR: 10]) (p < 0.001). Conversely, the mean value of diastolic blood pressure was significantly lower in the PDR group (79.2 ± 11.1) compared to the NPDR group (83.4 ± 10.3) (p = 0.02). Logistic regression analysis, revealed that the odds for patients with dyslipidemia to develop PDR were 2.74 times higher than those with NPDR (95% CI: 1.08-6.98) (p = 0.034). Furthermore, the probability of a patient with ≥20 years of diabetes to develop PDR was seven times higher than other patients (95% CI: 1.98-27.91) (p = 0.003). The genotypes distribution of ALR2 gene and its allele frequency showed no statistical differences between the two groups (p > 0.05).

The present study showed that duration of diabetes and dyslipidemia were strong indicators for PDR progression, while ALR2 (C106T) polymorphism was not associated with severity of DR.