Genetics and diabetic retinopathy

Curr Diabetes Rev. 2013 Jan 1;9(1):86-92.

Abstract

There are many reasons to suspect a genetic influence on the development and progression of diabetic retinopathy, including substantial variability in disease severity among patients with similar risk factors. Linkage studies have suggested associations with chromosomes 1, 3, 12 and others. The most studied individual genes are those encoding vascular endothelial growth factor, aldose reductase, and the receptor for advanced glycation end products, all of which have shown statistically significant associations in multiple series from various parts of the world. At this time, no definite genetic associations with diabetic retinopathy have been consistently reported. This may be due to small sample sizes, differences in study design, underlying genetic differences between study populations, or other factors. As we continue to collect data, these relationships may become more clear.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Blindness / etiology
  • Blindness / genetics*
  • Blindness / prevention & control*
  • Diabetic Retinopathy / complications
  • Diabetic Retinopathy / genetics*
  • Diabetic Retinopathy / physiopathology
  • Disease Progression
  • Eye Proteins / genetics
  • Female
  • Genetic Predisposition to Disease
  • Glycation End Products, Advanced / genetics
  • Humans
  • Insulin-Like Growth Factor I / genetics
  • Male
  • Nerve Growth Factors / genetics
  • Protein Kinase C / genetics
  • Risk Factors
  • Serpins / genetics
  • Vascular Endothelial Growth Factor A / genetics

Substances

  • Eye Proteins
  • Glycation End Products, Advanced
  • Nerve Growth Factors
  • Serpins
  • VEGFA protein, human
  • Vascular Endothelial Growth Factor A
  • pigment epithelium-derived factor
  • Insulin-Like Growth Factor I
  • Protein Kinase C