Diabetic Retinopathy and Vascular Endothelial Growth Factor Gene Insertion/Deletion Polymorphism

Diabetic retinopathy (DR) is a microvascular complication of the retina of the eye and represents a major cause of blindness worldwide. It is a complex disorder characterized by both genetic and environmental factors. The vascular endothelial growth factor (VEGF) gene is among the main candidate genes for DR, as it is also involved in several other diseases, such as microvascular complications of diabetes mellitus and cancer. The VEGF gene is extremely polymorphic. The 18-bp fragment (insertion/deletion) polymorphism at the -2549 position of the promoter region of the VEGF gene is of great importance. In this review, we highlight the DR and VEGF gene (insertion/deletion) polymorphism. In addition, we assess this association in various DR populations and in other microvascular complications, such as diabetic nephropathy, diabetic peripheral neuropathy and cancer.