Genetic Markers and Proliferative Diabetic Retinopathy

In a previous study (2011), investigators demonstrated a statistically significant relation between the Endothelial Lipase(EL) c.584C\>T polymorphism and the occurrence of diabetic retinopathy in 396 french patients with diabetes type 2 (DT2) with a longitudinal follow-up. Secondly (2014) in a subgroup of 287 DT2 patients, investigators showed the impact of the EL rare T allele was consistent with a recessive mode of inheritance, with homozygotes for the rare allele differing from the carriers of the major allele. Importantly, the homozygotes for the rare T allele were more likely to present with advanced stages of diabetic retinopathy (severe non proliferative and proliferative disease) and particularly with proliferative diabetic retinopathy (PDR). Based on this model investigators decided to conduct a case-control prospective study comparing 155 french patients with DT2 with PDR (cases) and 155 french patients with DT2 without PDR (controls) on the basis of two genetic parameters: EL c.584C\>T polymorphism that investigators previously studied and the C(-106)T aldose reductase polymorphism widely studied in diabetic retinopathy.