The Role of Genetic Polymorphisms in Diabetic Retinopathy: Narrative Review

Abstract

Diabetic retinopathy (DR) is renowned as a leading cause of visual loss in working-age populations with its etiopathology influenced by the disturbance of biochemical metabolic pathways and genetic factors, including gene polymorphism. Metabolic pathways considered to have an impact on the development of the disease, as well as genes and polymorphisms that can affect the gene expression, modify the quantity and quality of the encoded product (protein), and significantly alter the metabolic pathway and its control, and thus cause changes in the functioning of metabolic pathways. In this article, the screening of chromosomes and the most important genes involved in the etiology of diabetic retinopathy is presented. The common databases with manuscripts published from January 2000 to June 2023 have been taken into consideration and chosen. This article indicates the role of specific genes in the development of diabetic retinopathy, as well as polymorphic changes within the indicated genes that may have an impact on exacerbating the symptoms of the disease. The collected data will allow for a broader look at the disease and help to select candidate genes that can become markers of the disease.

Association of manganese superoxide dismutase Ala16Val gene polymorphism with diabetic retinopathy risk in type 2 diabetes: A systematic review and meta-analysis

“…Even previously researched, the association between MnSOD Ala16Val polymorphism and DR risk in type 2 diabetes patients remains contentious. This result prompted further comprehensive research, specifically for T2DM patients, as it contributes to more than 90% of diabetes cases [2,3].…”

“…Diabetic retinopathy (DR), recognized as the earliest and most prevalent complication arising from diabetes, represents a leading cause of vision loss among the working-age population globally [1][2][3]. Remarkably, nearly one-third of diabetic patients above the age of 40 will develop DR, with approximately one in six facing severe vision impairments such as diabetic macular edema [4].…”

“…Clinically characterized by progressive microvascular alterations, DR pathogenesis involves occluded capillaries, neovascularization, breakdown of the blood-retinal barrier (BRB), altered retinal permeability, and macular edema [5]. Multiple factors contribute to the development of DR, including persistent hyperglycemia, uncontrolled lipid levels, hypertension, and genetic influences [3,6].…”

Diabetic Retinopathy: New Treatment Approaches Targeting Redox and Immune Mechanisms

“…For example, numerous studies have identified associations between gene polymorphisms and the occurrence and progression of DR. For instance, the polymorphisms in genes such as VEGF, involved in angiogenesis, TNF-α, related to inflammation, and eNOS, associated with endothelial cell function, have been closely linked to DR development [115]. In addition, the genes implicated in diabetic complications, such as AKR1B1, the receptor for AGE (RAGE), and eNOS genes, have shown associations with DR [116].…”