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Carl F. Arndt, Isabelle Leclercq, Alain Ducasse, Vincent Durlach; Association Of Endothelial Lipase Thr111ile Polymorphism Is A Risk Factor For Proliferative Diabetic Retinopathy In Type 2 Diabetic Patients. Invest. Ophthalmol. Vis. Sci. 2011;52(14):4419.
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Identifying risk factors for diabetic retinopathy (DR) is a major challenge in order to meet the increasing screening workload. DR has been associated with lipid disorders.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. The purpose is to characterize the features of diabetic retinopathy in case of polymorphism in endothelial lipase (EL) gene.
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). A chart review was performed in order to grade retrospectively the stage of DR in these patients.
Homozygosity for the minor allele was significantly associated with the frequency of retinopathy (OR=4.996, p=0.025) with homozygous subjects being more likely to have DR (OR 3.505; 95%CI: 1.491-8.239). In homozygotes (T/T) and heterozygotes (C/T) for the minor allele, the rate of proliferative DR was 10.6% versus 0.8% in C/C homozygotes.
The presence of the minor allele might be a significant risk factor for developing sight threatening disease due proliferative DR. Further studies of this EL polymorphism are currently undertaken to confirm these results on a larger population sample and in a prospective manner.
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