Abstract
Diabetic retinopathy (DR) is a multifactorial disease with complex pathophysiology. It is the main cause of blindness among the people in productive age. The purpose of this literature review is to highlight recent achievements in the genetics of diabetic retinopathy with particular focus on candidate gene studies. We summarized most of the available published data about candidate genes for diabetic retinopathy with the goal to identify main genetic aspects. We conclude that genetic studies reported contradictory findings and no genetic variants meet criteria of a diagnostic marker, or significantly elucidate the root of DR development. Based on these findings it is important to continue with the research in the field of DR genetics, mainly due to the fact that currently new possibilities and approaches associated with utilization of next-generation sequencing are available.
Highlights
Diabetes mellitus (DM) is one of the most significant health problems worldwide
Studies have shown that GSTT1-null genotype is found more frequently in the cases with Diabetic retinopathy (DR) in Caucasians patients with T2DM compared to controls, so the GSTT1-null genotype can be a risk factor for DR The individuals homozygous for the GSTT1-null allele had more generalized vasculopathy that leads to increased risk of sight threatening DR
The role of peroxisome proliferator-activated receptor γ (PPARγ) in DR pathogenesis has come to forefront mainly because of the protein’s role in vascular permeability, inflammation, angiogenesis, neovascularization, and insulin resistance, all of which contribute to the onset and severity of DR
Summary
Diabetes mellitus (DM) is one of the most significant health problems worldwide. I t is a metabolic disorder in which elevated blood sugar levels are present as a result of the inability to produce a sufficient amount of insulin (type 1) or because of cellular insulin resistance (type 2). Inconsistent finding and weak association, functional studies show differences in polymorphic receptor activity Caucasian, Euro-Brazilian, 4G/5G allele increases risk but finding inconsis- [28, 55, 66, Multi-ethnic, Pakistani tent, ethnicity discrepancies
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