Association of Superoxide Dismutase 2 Polymorphism Rs4880 and Open-Angle Glaucoma in a Greek Patients’ Cohort

Purpose: Glaucoma is a multifactorial optic neuropathy and leading cause of visual impairment and blindness. Multigenic inheritance hypothesis is being investigated over the past decades and numerous mainly causative and synergic polymorphisms have been revealed. Aim of this study is to investigate whether superoxide dismutase 2 (SOD2) polymorphism rs4880 is associated with primary open angle glaucoma (POAG) in Greek population. Materials and method: This is a case control study of 106 POAG patients and 120 thoroughly examined, unrelated, healthy control subjects of Greek origin, surveyed for SOD2 polymorphism rs4880 and potential correlation to POAG. Results: SOD2 rs4880 polymorphism showed no statistically significant difference between POAG patients and healthy controls. Mean intraocular pressure (IOP) of both eyes of the heterozygous (T/C) group was found significantly higher than in homozygous (T/T) group (19.13 ± 0.60 vs. 17.59 ± 0.33, p = 0.02). When we compared the IOP in each eye separately, the (T/C) and (C/C) carriers had significantly higher IOP on their left eye compared to the (T/T) carriers [(Τ/C) 18.79 ± 0.56 vs. (Τ/Τ) 17.2 ± 0.36, p = 0.02 and (C/C) 20.75 ± 2.14 vs. (Τ/Τ) 17.2 ± 0.36, p = 0.03). Conclusion: Our study did not find any significant association between SOD2 rs4880 polymorphism and POAG. Mean IOP of the polymorphic (C) allele carriers was found significantly higher than in homozygous (T/T) group. As we cannot reject the possibility that oxidative stress might be a crucial factor for the POAG development further studies may be needed to confirm the importance of SOD2 gene in POAG pathogenesis. as a potential risk factor in glaucoma pathogenesis [14-17]. Superoxide dismutase (SOD) genes encode antioxidant enzymes that play a significant role in oxidative stress defense, by clearing reactive oxygen species (ROS) [14]. Among SOD genes, SOD2 encodes manganese superoxide dismutase (MnSOD), a primary mitochondrial antioxidant enzyme that protects cells form oxidative stress by dismutating superoxide (O2(.-)) to hydrogen peroxide and oxygen preventing mitochondrial dysfunction and eukaryotic cells premature apoptosis. Previous studies have investigated a mutation at c.47T > C (rs4880 polymorphism) in the SOD2 gene and its potential correlation with POAG; results though remain controversial [18-20]. Because of: the important role of mitochondria in retinal ganglion cells apoptosis, the increasing evidence of oxidative stress involvement in many pathologic conditions [21,22] including glaucoma, the presence of Mn-SOD enzyme in mitochondria and controversial results from previous studies, we decided to investigate whether this mutation is a risk factor for POAG in Greek population. Citation: Lavaris A, Gazouli M, Kitsos G, Brouzas D, Moschos MM (2016) Association of Superoxide Dismutase 2 Polymorphism Rs4880 and OpenAngle Glaucoma in a Greek Patients’ Cohort. J Genet Syndr Gene Ther 7: 285. doi:10.4172/2157-7412.1000285