Genetic factors pay a key role in the onset and progression of diabetic retinopathy.
Though much is known about diabetic retinopathy (DR), the mechanisms underlying its etiology are still unclear.
With this part of the puzzle still unsolved, the treatments that presently are available for DR are inadequate in that they cannot reverse of prevent the ocular complications of diabetes, say researchers.
Investigators from the Medical College of Georgia, Augusta University, led by Ashok Sharma, PhD, of the Center for Biotechnology and Genomic Medicine and the Department of Population Health Sciences, took the next step in the evaluation of 65 genes that had been identified in association with DR.
The genes were identified by linkage analysis, candidate gene association, and genome-wide association studies. Most of these genes that are associated with DR had been identified through candidate gene-based association studies, they explained.
Dr. Sharma and associates hoped that mapping them to biologic processes and pathways, they could add to the understanding of the functional role of these genes in the pathogenesis of DR, the authors explained.
The genetic analysis performed in the current study found that most of these genes belong to various biologic pathways that make a significant contribution to the pathogenesis of DR.
These include insulin signaling, angiogenesis (hypoxia-inducible factor-1 signaling, regulation of blood vessel size, vascular endothelial growth factor signaling), inflammation (interleukin-6 signaling, leukocyte adhesion, transforming growth factor-B, and tumor necrosis factor signaling), lipid metabolic process, neurogenesis (neural cell differentiation, neurotrophin signaling), and protein kinase signaling (Jak-STAT, P13K-Akt, MAPK, Ras, and mTOR signaling).
RELATED: Gene-edited babies
Ashok Sharma, PhD
E: [email protected]
The authors reported no conflicts of interest associated with this report. The research was supported by a grant to Dr. Sharma from the National Institutes of Health/National Eye Institute.