Genetics of diabetic retinopathy

Familial aggregation as well as racial and ethnic differences in incidence suggest that genetic components play a role in the development of diabetic retinopathy (DR), several approaches have been used to identify genes contributing to the development of retinopathy. We searched the literature database using the keywords [diabetes], [gene], for publications dealing with retinopathy. 88 original publications reporting data on genetics of retinopathy were found. For the purpose of this review, a simple scoring system was applied, that results in a score for each considered gene to indicate its potential relevance in genetic control of retinopathy. Based on published studies, the most intriguing genes for further genetic studies are aldose receptor, advanced glycation end products receptor, vascular endothelial growth factor, intercellular adhesion molecule 1, beta(3)-adrenergic receptor gene, hemochromatosis, and alpha 2 beta 1 integrin. Pathways involving these gene products may represent a fruitful area for further studies aimed at investigating the genetics and pathophysiology of DR. Meta-analyses of candidate gene studies may provide further useful insights into their role. In addition, our paper addresses several issues challenging genetic studies of retinopathy such as replication of associations, patient ascertainment schemes, or accurately defined phenotypes.