C Arndt1, I Leclercq1, P Nazeyrollas2, A Durlach3, A Ducasse1, I Movesayan4, E Socquard5, C Clavel3, M M Malloy4, C R Pullinger4, J P Kane4, V Durlach6. 1. Service d'Ophtalmologie, Hôpital Robert-Debré, Centre Hospitalo-Universitaire, 51092 Reims, France. 2. Pôle Thoracique, Cardio-Vasculaire et Neurologique, Centre Hospitalo-Universitaire, 51092 Reims, France. 3. Laboratoire Pol Bouin, Hôpital Maison-Blanche, Centre Hospitalo-Universitaire, 51092 Reims, France. 4. Cardiovascular Research Institute, 555, Mission Bay Boulevard South Room 252A, Box 311, San Francisco, CA 94158, USA. 5. Service d'Endocrinologie, Maladies Métaboliques et de Médecine Interne, Hôpital Robert-Debré, Centre Hospitalo-Universitaire, 51092 Reims, France. 6. Pôle Thoracique, Cardio-Vasculaire et Neurologique, Centre Hospitalo-Universitaire, 51092 Reims, France; Cardiovascular Research Institute, 555, Mission Bay Boulevard South Room 252A, Box 311, San Francisco, CA 94158, USA. Electronic address: vincent.durlach@univ-reims.fr.
Abstract
AIM: Our previous study demonstrated that the endothelial lipase (EL) C.584C>T polymorphism (rs2000813, p.Thr111Ile) was significantly associated with diabetic retinopathy (DR). The present work was conducted to see if this specific variant of the EL gene was more specifically linked to the severity of DR. METHODS: This retrospective cohort study was based on a review of the institutional charts of 287 type 2 diabetes patients (mean age = 59.7 years; mean BMI = 29.0 kg/m(2); mean HbA1c=8.4%) genotyped for the EL C.584C>T polymorphism (rs2000813, p.Thr111Ile). The stage of DR was also determined for each genotype (CC, CT, TT). RESULTS: On univariate analysis, the minor allele homozygote TT variant was significantly associated with severe DR (OR: 4.3; 95% CI: 1.4, 13.1) compared with the major CC homozygote. No significant result was found for the CT heterozygote. Multivariate analysis revealed an increased risk for TT homozygotes to present with severe non-proliferative DR (OR: 8.09; 95% CI: 1.23, 53.1) or proliferative DR. Other associations were not significant. CONCLUSION: Minor allele homozygosity for this EL variant (c.584C>T) could be a significant risk factor for developing severe, sight-threatening disease due to proliferative DR. Further prospective studies of this EL polymorphism in a larger population sample are needed to confirm these results.
AIM: Our previous study demonstrated that the endothelial lipase (EL) C.584C>T polymorphism (rs2000813, p.Thr111Ile) was significantly associated with diabetic retinopathy (DR). The present work was conducted to see if this specific variant of the EL gene was more specifically linked to the severity of DR. METHODS: This retrospective cohort study was based on a review of the institutional charts of 287 type 2 diabetespatients (mean age = 59.7 years; mean BMI = 29.0 kg/m(2); mean HbA1c=8.4%) genotyped for the EL C.584C>T polymorphism (rs2000813, p.Thr111Ile). The stage of DR was also determined for each genotype (CC, CT, TT). RESULTS: On univariate analysis, the minor allele homozygote TT variant was significantly associated with severe DR (OR: 4.3; 95% CI: 1.4, 13.1) compared with the major CC homozygote. No significant result was found for the CT heterozygote. Multivariate analysis revealed an increased risk for TT homozygotes to present with severe non-proliferative DR (OR: 8.09; 95% CI: 1.23, 53.1) or proliferative DR. Other associations were not significant. CONCLUSION: Minor allele homozygosity for this EL variant (c.584C>T) could be a significant risk factor for developing severe, sight-threatening disease due to proliferative DR. Further prospective studies of this EL polymorphism in a larger population sample are needed to confirm these results.