Genetic Variations in Diabetic Patients with Proliferative and Non-proliferative Retinopathy
Shirel Weiss , Merav Gabbay , Olga Dratviman-Storobinsky , Mohamed Atamney , Ruth Axer-Siegel , Uri Gabbay , Yoram Cohen and Nitza Goldenberg-Cohen
Abstract: Background and Objective: Gene variants associated with diabetes type-2 in the Scandinavian population are population specific and are not predictive in Israelis except for the FTO variant. Of all variants examined, proliferative diabetic retinopathy was associated with KCNJ11 variant only. This study objective was to determine if genes associated with the risk of diabetes mellitus type-2 in the Scandinavian population predict the development and progression/severity of diabetes mellitus type-2 in the Israeli population. Materials and Methods: The study sample included 146 patients with diabetes mellitus type-2 of more than 20 year’s duration, 16 with proliferative diabetic retinopathy and 130 without and 51 healthy controls. Demographic and clinical data were derived from the medical files. Genetic analysis was performed with the chip-based matrix-assisted laser desorption-time-of-flight mass spectrometer (Sequenom) on DNA extracted from peripheral blood leukocytes. Sixteen single nucleotide polymorphisms in 16 candidate genes identified in the Scandinavian population were investigated: TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, HHEX, CDKN2, TSPAN8, ADAMTS9, CDC123 and THADA. Main outcome measures were frequencies compared between study patients and controls, study patients with and without proliferative diabetic retinopathy among Israeli, Scandinavian and European populations. Results: Unlike the Scandinavian findings, only the FTO variant (rs9939309) was significantly associated with diabetes mellitus type-2 in the Israeli patients (p = 0.031). Regarding retinopathy, patients with proliferative diabetic retinopathy had a significantly higher frequency of the risk allele in KCNJ11 than patients without proliferative diabetic retinopathy (p = 0.03). Frequencies for 11 single nucleotide polymorphisms were similar in the healthy Israeli and European populations. No similarities were found between the Scandinavian and European populations. Conclusion: The gene variants associated with DM2 in the Scandinavian population are apparently population-specific. In Israelis, the FTO variant may play a predictive role in diabetes mellitus type-2 and the KCNJ11 variant in proliferative diabetic retinopathy. More studies are needed in larger samples with a longer duration of proliferative diabetic retinopathy.
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		How to Cite: Shirel Weiss, Merav Gabbay, Olga Dratviman-Storobinsky, Mohamed Atamney, Ruth Axer-Siegel, Uri Gabbay, Yoram Cohen and Nitza Goldenberg-Cohen , 2016. Genetic Variations in Diabetic Patients with Proliferative and Non-proliferative Retinopathy. Insight Diabetes, 1: 1-6 DOI: 10.5567/DIA-IK.2016.1.6