THE rs4712527 POLYMORPHISM IN THE CDKAL1 GENE, AS A PROTECTIVE PREDICTOR OF PROLIFERATIVE DIABETIC RETINOPATHY DEVELOPMENT IN TYPE 2 DIABETIC PATIENTS.

Abstract

Purpose : To investigate whether the presence of seven polymorphisms in six candidate genes is associated with proliferative diabetic retinopathy (PDR) in a cohort of Argentinean patients with type 2 diabetes mellitus (DM2)

Methods : A total of 231 patients (126 patients with PDR and 105 patients with DM but without PDR) who were not diagnosed with DM2 and assisted at the Romagosa Eye Clinic were studied. Anthropometric and ophthalmologic parameters were evaluated. Blood glucose levels, HbA1c and lipid profile were measured. It was recorded whether they were smokers, type of pharmacological treatment received, blood pressure, years of disease duration and presence / absence of macular edema. The presence of the polymorphisms MTHFR (rs1801133), bFGF (553 T> A), CDKAL1 (rs4712527), VEGF (rs699947, rs35569394), TCF7L2 (rs7903146) and ECA (rs4646994) were analyzed by the PCR-RFLP technique

Results : The presence of the rs4712527 polymorphism of the CDKAL1 gene confers a lower risk of developing proliferative diabetic retinopathy (OR = 0.34, 95% CI = 0.13-0.87, P = 0.022). The polymorphisms MTHFR (rs1801133), bFGF (553 T> A), VEGF (rs699947, rs35569394), TCF7L2 (rs7903146) and ECA (rs4646994) showed no significant differences.

Conclusions : The present study shows for the first time the association between the presence of the polymorphism G of rs4712527 in the CDKAL1 gene as a protective factor in the development of proliferative diabetic retinopathy in Argentine patients with DM2. The same association with the other polymorphisms studied has not been found.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.