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Article Type

Review

Abstract

Genetics play a major role in diabetic retinopathy DR, which is a leading cause of blindness worldwide. Although the factors such as how long a person has had diabetes and high blood sugar are important, the wide variation and progression of DR indicates to a clear genetic influence. Early studies focusing on a few candidate genes (such as VEGF) produced conflicting and population-dependent results. This confirmed the multifactorial nature of the disease and the limitations of small-scale studies. Conversely, genome wide association studies (GWAS) have provided more consistent findings in detection a new genes related to DR. For example, rs2239785 variant which is located in the APOL1 gene was found to be a high risk factor for diabetic macular edema (DME) in American of African ancestry. In addition to genetic factors, the principle of metabolic memory has revealed that the epigenetic modification has a critical role in DR pathogenesis. Where it confirmed that the poor control history of blood sugar can lead to a persistent alteration in gene expression which contribute in progression of DR. Through the combinations of genetic, epigenetic, and clinical data with artificial intelligence (AI), it will allow for more accurate predictions of disease progression and better targeted treatments which leads to more effective innovations for each case rather than the current model, which applies to everyone.

Keywords

Diabetic retinopathy, VEGF gene, APOL1 gene, Diabetic macular edema

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