Журнал генетических синдромов и генной терапии
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Association of Superoxide Dismutase 2 Polymorphism Rs4880 and Open-Angle Glaucoma in a Greek Patients Cohort

Anastasios Lavaris, Maria Gazouli, Georgios Kitsos, Dimitrios Brouzas and Marilita M Moschos

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.