[Genetics of diabetic complications: retinopathy].
Multiple clinical and physiopathological studies as well as genetic analysis, suggest that diabetic retinopathy (DR) is a consequent of interactions between environmental factors, especially hyperglycaemia, and several genetic factors. The genes of aldose reductase (AR), inducible nitric oxide synthase (NOS2A), endothelial nitric oxide synthase (NOS3), vascular endothelial growth factor (VEGF), pigmented epithelium-derived factor (PEDF), protein kinase C-beta (PKC-beta) and receptor for advanced glycation end products (RAGE) implicated in the pathogenesis of DR. The only genetic marker associated with risk of DR in several studies is a microsatellite (A-C)n at 5'end of AR. The synergistic combination of conventional approaches (e.g. candidate gene association studies) with new emerging technologies (e.g. biochips) will be a key factor in the elucidation of the genetic aspects of DR.
Taverna
M J
MJ
Laboratoire de Diabétologie, INSERM U.341, Hôpital Hôtel-Dieu, 75004 Paris. taverna1@yahoo.fr
D000449:Aldehyde Reductase / Q000235:genetics; D003930:Diabetic Retinopathy / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D019001:Nitric Oxide Synthase / Q000235:genetics; D052247:Nitric Oxide Synthase Type II; D052250:Nitric Oxide Synthase Type III; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics
D042461:Vascular Endothelial Growth Factor A; D000449:Aldehyde Reductase; C496319:NOS2 protein, human; C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052247:Nitric Oxide Synthase Type II; D052250:Nitric Oxide Synthase Type III