Genetics of diabetic retinopathy

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):337-46. doi: 10.3109/08820538.2013.825287.

Abstract

Multiple studies have shown that genetic factors may play an important role in determining an individual's risk for the development of diabetic retinopathy (DR) and progression to proliferative DR. However, consistent and definitive genetic associations with DR across broad populations have been not been established. Numerous genes have been studied for their association with DR and the results of these investigations have most specifically pointed to three specific genes that are likely involved in DR development and progression. The gene coding for vascular endothelial growth factor, aldose reductase, and the receptor for advanced glycation end products have been extensively evaluated, and specific polymorphisms of these genes have been suggested to potentially increase the risk of DR development. In this paper, we have reviewed the published literature on the genetics of DR and the potential implications for DR development and progression.

Publication types

  • Review

MeSH terms

  • Aldehyde Reductase / genetics
  • Diabetic Retinopathy / genetics*
  • Humans
  • Polymorphism, Single Nucleotide
  • Receptor for Advanced Glycation End Products
  • Receptors, Immunologic / genetics
  • Risk Factors
  • Vascular Endothelial Growth Factor A / genetics

Substances

  • Receptor for Advanced Glycation End Products
  • Receptors, Immunologic
  • VEGFA protein, human
  • Vascular Endothelial Growth Factor A
  • Aldehyde Reductase