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

Katarzyna Malinowska; Michał Kowalski; Jerzy Szaflik; Jerzy P. Szaflik; Ireneusz Majsterek

doi:10.5114/pjp.2016.65875

eISSN: 2084-9869
ISSN: 1233-9687

Polish Journal of Pathology

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4/2016
vol. 67

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abstract:

Original paper

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

Katarzyna Malinowska

,

Michał Kowalski

,

Jerzy Szaflik

,

Jerzy P. Szaflik

,

Ireneusz Majsterek

Pol J Pathol 2016; 67 (4): 404-410

DOI: https://doi.org/10.5114/pjp.2016.65875

Online publish date: 2017/02/10

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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.

keywords:

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

Katarzyna Malinowska , Michał Kowalski , Jerzy Szaflik , Jerzy P. Szaflik , Ireneusz Majsterek

open-angle glaucoma, gene polymorphism, CAT, GPX1, SOD1

Katarzyna Malinowska

,

Michał Kowalski

,

Jerzy Szaflik

,

Jerzy P. Szaflik

,

Ireneusz Majsterek