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ISSN: 1233-9687
Polish Journal of Pathology
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4/2014
vol. 65
 
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abstract:

Original paper
The relationship of TP53 and GRIN2B gene polymorphisms with risk of occurrence and progression of primary open-angle glaucoma in a Polish population

Alicja Nowak
,
Karolina Przybylowska-Sygut
,
Katarzyna Szymanek
,
Jerzy Szaflik
,
Jacek P. Szaflik
,
Ireneusz Majsterek

Pol J Pathol 2014; 65 (4): 313-321
DOI: https://doi.org/10.5114/pjp.2014.48193
Online publish date: 2015/02/02
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Introduction: Glaucoma is characterized by optic neuropathy of the retinal ganglion cells (RGCs). Retinal ganglian cell death may be mediated by apoptosis. TP53 is involved in this process. It can also be found that excitotoxicity contributes to apoptosis by excess stimulation of glutamate receptors. The aim of this study was to evaluate the relationship of the TP53 (rs1042522) and GRIN2B (rs3764028) gene polymorphisms with risk of occurrence of primary open-angle glaucoma (POAG).

Material and methods: The study population consisted of 186 patients and 188 healthy subjects. Genomic DNA was extracted from peripheral blood. Analysis of the gene polymorphisms was performed using PCR-RFLP.

Results: Comparison of the distributions of genotypes and alleles of the rs1042522 and rs3764028 polymorphisms showed no statistically significant differences between POAG patients and controls (p > 0.05). There was a statistically significant association of the rs1042522 polymorphism with progression of POAG depending on the retinal nerve fiber layer (p = 0.019). However, no significant differences between rs3764028 polymorphism and clinical parameters of POAG were observed (p > 0.05).

Conclusions: The TP53 Arg72Pro and GRIN2B -421C/A gene polymorphisms were not associated with risk of occurrence of POAG in the Polish population. However, the Arg72Pro polymorphism of the TP53 gene may be related to progression of POAG.
keywords:

glaucoma, neurodegeneration, gene polymorphism, apoptosis, excitotoxicity
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