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

• Main Authors: Katarzyna Malinowska, Michał Kowalski, Jerzy Szaflik, Jerzy P. Szaflik, Ireneusz Majsterek
• Format: Article
• Language: English
• Published: Termedia Publishing House 2017-02-01
• Series: Polish Journal of Pathology
• Subjects: open-angle glaucoma; gene polymorphism; CAT; GPX1; SOD1
• Online Access: https://www.termedia.pl/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,55,29484,1,1.html

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.