Association of endothelial lipase Thr111ile polymorphism with diabetic retinopathy in type 2 diabetic patients

Abstract

Abstract Purpose Identifying risk factors for diabetic retinopathy (DR) is a major challenge in order to meet the increasing screening workload. Endothelial lipase is a key enzyme in lipid metabolism, thus a polymorphism in the EL gene may be a candidate for modulating the incidence of microangiopathy in type 2 diabetic subjects.To characterize the features of diabetic retinopathy in case of polymorphism in endothelial lipase (EL) gene. Methods In a group of 396 NIDD M patients (mean age=59.5 years, mean BMI=28.9 kg/m2, and mean HbA1C=8.2%), the c.584C>T polymorphism (rs2000813, p.Thr111Ile) was found in 225 males (frequency of c.584T=0.351) and 171 females (frequency of c.584T=0.304). Results Homozygosity for the minor allele was significantly associated with the frequency of retinopathy (2=4.996, 1df, p=0.025) with homozygous subjects being more likely to have diabetic retinopathy (OR 3.505; 95%CI: 1.491‐8.239). In this group, proliferative DR was most frequently encountered (33,3%), followed by minimal non proliferative DR (28,5%), severe nonproliferative DR (26,2%) and moderate non proliferative (12%). Conclusion The presence of this polymorphism of the EL gene might be useful to identify a subgroup of diabetic patients at high risk for developing sight threatening proliferative diabetic retinopathy.