Abstract

Aim: Substantial data indicate that oxidative stress is involved in the development of diabetic retinopathy (DR). The aim of the present study was to investigate whether the genetic polymorphisms: polymorphic deletions of glutathione S-transferases M1 (GSTM1) and T1 (GSTT1) and Ile105Val of the GSTP1 are associated with DR in Slovenian patients with type 2 diabetes.Methods: In this cross sectional case-control study 604 unrelated Slovene subjects (Caucasians) with type 2 diabetes mellitus were enrolled: 284 patients with DR (cases) and the control group of 320 subjects with type 2 diabetes of more than 10 years’ duration who had no clinical signs of DR. Genotypes were determined by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).Results: In our study, the deletion of the GSTM1 was found less frequent in cases with DR than in the controls (27.5% versus 44.4%;P< 0.001), whereas the deletion of GSTT1 was found significantly more often in cases than in the controls (49.3% versus 29.7%;P< 0.001). We did not find statistically significant differences in the genotype distribution in GSTP1 (Ile105Val) polymorphism between cases and controls (40.5% versus 46.0%).Conclusions: We may conclude that individuals homozygous for the deletion of GSTT1 are at an ≈ 2-fold-greater risk of DR, whereas the GSTM1 deficiency is associated with lower frequency of DR in type 2 diabetics.

Highlights

  • Type 2 diabetes mellitus is a common multifactorial genetic syndrome, which is determined by several different genes and environmental factors

  • The aim of the present study was to investigate whether the genetic polymorphisms: polymorphic deletions of glutathione S-transferases M1 (GSTM1) and T1 (GSTT1) and Ile105Val of the GSTP1 are associated with diabetic retinopathy (DR) in a large sample of Caucasians with type 2 diabetes

  • The GSTP1 codon 105 variant was present in HardyWeinberg equilibrium (HWE) (GSTP1 cases: 2 = 0.856, p = 0.35; GSTP1 controls: 2 = 0.15, p = 0.7); HWE was not assessed for the GSTM1 and GSTT1 variants because heterozygous individuals could not be distinguished from the homozygous wild type

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Summary

Introduction

Type 2 diabetes mellitus is a common multifactorial genetic syndrome, which is determined by several different genes and environmental factors. It affects 350 million people world wide but its incidence is in-. Creasing rapidly because of secondary factors, such as obesity, hypertension, and lack of physical activity [16, 52]. Substantial data indicate that oxidative stress is involved in the development of diabetic retinopathy (DR) [3,22,30,33]. I. Cilensek et al / GSTT1 null genotype is a risk factor for diabetic retinopathy in Caucasians

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