The role of Cat -262C/T, GPX1 Pro198Leu and Sod1+35A/C gene polymorphisms in a development of primary open-angle glaucoma in a Polish population

Abstract

The development of glaucoma may be connected with a long-term exposure to oxidative stress caused by free radical (ROS). The main aim of this work was an analysis of associations of Cat-262C/T, GPX1 Pro198Leu and SOD1 35 A/C gene polymorphisms of antioxidant enzymes with a risk of open-angle glaucoma (POAG) in a Polish population. DNA samples collected from 209 patients with POAG and 191 healthy controls were used in this study. Polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). We found that the +35A/C polymorphisms of SOD1 were not associated with a risk of POAG. We found that C/T genotype (1-GPX1Pro198Leu, 2-Cat C262T) is associated with increased risk of open angle glaucoma (1-OR = 2.24; 95% CI: 1.46-3.44; p = 0.0001, 2-OR = 2.16; 95% CI: 1.35-3.34; p = 0.001). We also found that T/T genotype is a risk factor for progression of POAG (1-OR = 3.86; 95% Cl: 1.36-10.96; p = 0.007, 2-OR = 6.37; 95% CI: 1.39-29.28; p = 0.007). Finally our data suggest that gene polymorphisms of GPX1 Pro198Leu and CAT C262T may have a protective role in the development of primary open-angle glaucoma in a Polish population.

Current Understanding of Human Polymorphism in Selenoprotein Genes: A Review of Its Significance as a Risk Biomarker

“…Similar results were found in an Iran cohort [75] and the Turkish population [76]. In the Polish cohort, the T/T genotype was associated with the progression of open-angle glaucoma, and the C/T genotype carriers had an increased risk for the disease [73]. Studies also aimed to evaluate the association between this variation and diabetes mellitus.…”

No evidence for a major effect of three common polymorphisms of the GPx1, MnSOD, and CAT genes on PCOS susceptibility

“…Polymorphism of catalase gene in the promoter region (rs1001179) affects transcription factor binding and thus decreases enzymatic activity of catalase leading to increased formation of hydroxyl radicals and elevated risk of asbestosis, breast cancer development, and arsenic-induced hyperkeratosis. 42 Recently, the association between the polymorphisms of CAT gene with glaucoma, 43 ulcerative colitis, 44 diabetes, 45 hypertension, 46 and Alzheimer's disease 47 have been investigated.…”

The Role of Endogenous Neuroprotective Mechanisms in the Prevention of Retinal Ganglion Cells Degeneration

“…Similar findings were obtained in Saudi patients with POAG; however, on the basis of the study results, the authors suggested that the C47T SOD2 mutation can be a risk factor for various clinical indices, such as high IOP and severe clinical course ( Abu-Amero et al, 2014b ). The possible link between SOD1 35A/C and the risk of POAG was studied in a Polish population and no association was found ( Malinowska et al, 2016 ). The same study found instead that the C/T genotype of both GPx Pro198 Leu and CAT -262C/T confers major risks to developing POAG.…”