title: Genetics and diabetic retinopathy.
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.
authors.affiliation: Bascom Palmer Eye Institute at Naples, 311 9th Street North #100, Naples, FL 34102, USA. sschwartz2@med.miami.edu
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Schwartz
authors.forename: Milam A
authors.initials: MA
authors.lastname: Brantley
authors.forename: Harry W
authors.initials: HW
authors.lastname: Flynn
mesh_terms: D001766:Blindness / Q000209:etiology / Q000235:genetics* / Q000517:prevention & control*; D003930:Diabetic Retinopathy / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D018450:Disease Progression; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D017127:Glycation End Products, Advanced / Q000235:genetics; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics; D008297:Male; D009414:Nerve Growth Factors / Q000235:genetics; D011493:Protein Kinase C / Q000235:genetics; D012307:Risk Factors; D015843:Serpins / Q000235:genetics; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics; D000099174:Pigment Epithelium-Derived Factor
chemical_list: D005136:Eye Proteins; D017127:Glycation End Products, Advanced; D007334:Insulin-Like Growth Factor I; D009414:Nerve Growth Factors; D011493:Protein Kinase C; D015843:Serpins; D042461:Vascular Endothelial Growth Factor A; D000099174:Pigment Epithelium-Derived Factor; C467484:VEGFA protein, human