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

Abstract

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. 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.

Detection of GSTM1-null Genotype in Women Undergoing IVF Treatment

“…Moreover, it has been suggested that GSTM1-null genotype is an important genetic risk factor for gastric, lung and colorectal cancer development [31,32]. Another pathology that has been associated with GSTM1 polymorphisms is glaucoma, with increased incidence of primary open-angle glaucoma (POAG) in the null variant [33]. Similarly, the GSTM1-null genotype is linked to an elevated risk of POAG in smokers, according to a study by Stamenkovic et al, suggesting a possible gene-environment interaction [34] and a meta-analysis by Yu et al demonstrated that combinations of GST polymorphisms are linked to an increased risk of glaucoma [35].…”

Association between optic atrophy 1 polymorphisms and primary open angle glaucoma risk: Based on a meta-analysis

“…Finally, 11 publications (14 case-control studies) involving 2,413 POAG patients and 1,904 controls focusing on rs166850 C/T and rs10451941T/C were included in this meta-analysis. [13][14][15][16][17][18][19][20][21][22][23] Eight of the studies were conducted on Caucasian descendants, three on Asian descendants and three on African descendants. For the control design, eight studies were conducted with population-based (PB) controls, four with hospital-based (HB) controls, and two with other individuals.…”

The Role of Mitophagy in Glaucomatous Neurodegeneration

“…This result was not validated by the study conducted by Liu et al [139], which demonstrated no association between the OPA1 polymorphisms and a POAG phenotype that includes increased IOP in Caucasian, African American and Ghanaian populations. Several other studies also failed to demonstrate a correlation between OPA1 and NTG in Greek [140], Korean [141], African Caribbean [142], Chinese [143], Mexican [144], German [76], Singaporean and Indian patient populations [145].…”