Unraveling the role of genetics in the pathogenesis of diabetic retinopathy

Abstract

Diabetic retinopathy (DR) is a microvascular disease of the retina and the leading cause of visual disability in diabetic patients. Genetic factors have shown to play a pivotal role in DR onset, and several candidate genes have been associated with its progression. A literature search was performed to identify the genes known to be associated with DR through linkage analysis, candidate gene association, and genome-wide association studies (GWAS). A further literature search was performed to discover their potential connection with various biological pathways. A total of 65 genes were found and several of these genes belong to major signaling pathways known to play a significant role in DR, including systemic inflammation, angiogenesis, and neurogenesis. A comprehensive analysis presented in this review will be helpful in unraveling the role of genetics in the pathogenesis of DR.

Fig. 1

Chronological list of genes associated with diabetic retinopathy. A comprehensive search of published literature was performed to generate a list of all the genes associated with diabetic retinopathy. Before 2007, most of the genes were discovered using linkage analysis or candidate gene approach. After 2007, the evolution of genome wide association studies (GWAS) led to the discovery of a large number of genes