Do Genomic Factors Play a Role in Diabetic Retinopathy?

• Main Authors: Andrea P. Cabrera, Finny Monickaraj, Sampathkumar Rangasamy, Sam Hobbs, Paul McGuire, Arup Das
• Format: Article
• Language: English
• Published: MDPI AG 2020-01-01
• Series: Journal of Clinical Medicine
• Subjects: diabetic retinopathy; genetics; gwas; whole exome sequencing; blood-retinal barrier; vegf
• Online Access: https://www.mdpi.com/2077-0383/9/1/216

Although there is strong clinical evidence that the control of blood glucose, blood pressure, and lipid level can prevent and slow down the progression of diabetic retinopathy (DR) as shown by landmark clinical trials, it has been shown that these factors only account for 10% of the risk for developing this disease. This suggests that other factors, such as genetics, may play a role in the development and progression of DR. Clinical evidence shows that some diabetics, despite the long duration of their diabetes (25 years or more) do not show any sign of DR or show minimal non-proliferative diabetic retinopathy (NPDR). Similarly, not all diabetics develop proliferative diabetic retinopathy (PDR). So far, linkage analysis, candidate gene studies, and genome-wide association studies (GWAS) have not produced any statistically significant results. We recently initiated a genomics study, the Diabetic Retinopathy Genetics (DRGen) Study, to examine the contribution of rare and common variants in the development of different phenotypes of DR, as well as their responsiveness to anti-VEGF treatment in diabetic macular edema (DME). Our preliminary findings reveal a novel set of genetic variants involved in the angiogenesis and inflammatory pathways that contribute to DR progression or protection. Further investigation of variants can help to develop novel biomarkers and lead to new therapeutic targets in DR.