SIRT1 rs7069102 Polymorphism Confers Increased Risk of Diabetic Retinopathy in T2DM

TL;DR

This study found that a specific genetic variation in the SIRT1 gene increases the risk of diabetic retinopathy in people with type 2 diabetes.

Contribution

The study identifies a novel association between the SIRT1 rs7069102 polymorphism and increased DR risk in T2DM patients.

Findings

The SIRT1 rs7069102 polymorphism was significantly associated with diabetic retinopathy under a dominant model.

Patients with CC or CG genotypes had a 30% higher risk of developing DR compared to those with the GG genotype.

No significant link was found between the TNF-α rs1800629 polymorphism and DR.

Abstract

Background: The incidence and prevalence of type 2 diabetes mellitus (T2DM) has been increasing worldwide recently. Diabetic retinopathy (DR) is a major ocular complication of diabetes mellitus, and it is the leading cause of blindness and visual impairment. Sirtuin 1 (SIRT 1) is a NAD+-dependent deacetylase and is involved in stress responses such as hypoxic and genotoxic stress, inflammation and heat shock. Tumor necrosis factor α (TNF-α) is an important inflammatory mediator that is involved in the pathogenesis of T2DM. The purpose of our study was to investigate the relationship between the SIRT1 rs7069102 polymorphism and TNF- α rs1800629 polymorphisms and diabetic retinopathy (DR) in patients with type 2 diabetes mellitus (T2DM). Materials and Methods: We analyzed 1554 Slovenian (Caucasian) patients with T2DM of at least 10 years’ duration, stratifying them into two groups: 577 patients with diabetic retinopathy (DR) and 977 patients without DR. Genotyping of SIRT1 rs7069102 and TNF-α rs1800629 polymorphisms was performed using the StepOne real-time PCR System with TaqMan SNP Genotyping Assays. Results and Conclusions: A significant difference in the distribution of SIRT1 rs7069102 genotypes and alleles was observed between the groups. Under the dominant inheritance model, patients with CC or CG genotypes were more likely to develop DR than those with the GG genotype (OR = 1.30; 95% CI = 1.02–1.65; p = 0.036). No significant association was found between TNF-α rs1800629 and DR.