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Polymorphism of the DNA Base Excision Repair Genes in Keratoconus

Keratoconus (KC) is a degenerative corneal disorder for which the exact pathogenesis is not yet known. Oxidative stress is reported to be associated with this disease. The stress may damage corneal biomolecules, including DNA, and such damage is primarily removed by base excision repair (BER). Varia...

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Autores principales: Wojcik, Katarzyna A., Synowiec, Ewelina, Sobierajczyk, Katarzyna, Izdebska, Justyna, Blasiak, Janusz, Szaflik, Jerzy, Szaflik, Jacek P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264133/
https://www.ncbi.nlm.nih.gov/pubmed/25356504
http://dx.doi.org/10.3390/ijms151119682
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author Wojcik, Katarzyna A.
Synowiec, Ewelina
Sobierajczyk, Katarzyna
Izdebska, Justyna
Blasiak, Janusz
Szaflik, Jerzy
Szaflik, Jacek P.
author_facet Wojcik, Katarzyna A.
Synowiec, Ewelina
Sobierajczyk, Katarzyna
Izdebska, Justyna
Blasiak, Janusz
Szaflik, Jerzy
Szaflik, Jacek P.
author_sort Wojcik, Katarzyna A.
collection PubMed
description Keratoconus (KC) is a degenerative corneal disorder for which the exact pathogenesis is not yet known. Oxidative stress is reported to be associated with this disease. The stress may damage corneal biomolecules, including DNA, and such damage is primarily removed by base excision repair (BER). Variation in genes encoding BER components may influence the effectiveness of corneal cells to cope with oxidative stress. In the present work we genotyped 5 polymorphisms of 4 BER genes in 284 patients and 353 controls. The A/A genotype of the c.–1370T>A polymorphism of the DNA polymerase γ (POLG) gene was associated with increased occurrence of KC, while the A/T genotype was associated with decreased occurrence of KC. The A/G genotype and the A allele of the c.1196A>G polymorphism of the X-ray repair cross-complementing group 1 (XRCC1) were associated with increased, and the G/G genotype and the G allele, with decreased KC occurrence. Also, the C/T and T as well as C/C genotypes and alleles of the c.580C>T polymorphism of the same gene displayed relationship with KC occurrence. Neither the g.46438521G>C polymorphism of the Nei endonuclease VIII-like 1 (NEIL1) nor the c.2285T>C polymorphism of the poly(ADP-ribose) polymerase-1 (PARP-1) was associated with KC. In conclusion, the variability of the XRCC1 and POLG genes may play a role in KC pathogenesis and determine the risk of this disease.
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spelling pubmed-42641332014-12-12 Polymorphism of the DNA Base Excision Repair Genes in Keratoconus Wojcik, Katarzyna A. Synowiec, Ewelina Sobierajczyk, Katarzyna Izdebska, Justyna Blasiak, Janusz Szaflik, Jerzy Szaflik, Jacek P. Int J Mol Sci Article Keratoconus (KC) is a degenerative corneal disorder for which the exact pathogenesis is not yet known. Oxidative stress is reported to be associated with this disease. The stress may damage corneal biomolecules, including DNA, and such damage is primarily removed by base excision repair (BER). Variation in genes encoding BER components may influence the effectiveness of corneal cells to cope with oxidative stress. In the present work we genotyped 5 polymorphisms of 4 BER genes in 284 patients and 353 controls. The A/A genotype of the c.–1370T>A polymorphism of the DNA polymerase γ (POLG) gene was associated with increased occurrence of KC, while the A/T genotype was associated with decreased occurrence of KC. The A/G genotype and the A allele of the c.1196A>G polymorphism of the X-ray repair cross-complementing group 1 (XRCC1) were associated with increased, and the G/G genotype and the G allele, with decreased KC occurrence. Also, the C/T and T as well as C/C genotypes and alleles of the c.580C>T polymorphism of the same gene displayed relationship with KC occurrence. Neither the g.46438521G>C polymorphism of the Nei endonuclease VIII-like 1 (NEIL1) nor the c.2285T>C polymorphism of the poly(ADP-ribose) polymerase-1 (PARP-1) was associated with KC. In conclusion, the variability of the XRCC1 and POLG genes may play a role in KC pathogenesis and determine the risk of this disease. MDPI 2014-10-29 /pmc/articles/PMC4264133/ /pubmed/25356504 http://dx.doi.org/10.3390/ijms151119682 Text en © 2014 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Wojcik, Katarzyna A.
Synowiec, Ewelina
Sobierajczyk, Katarzyna
Izdebska, Justyna
Blasiak, Janusz
Szaflik, Jerzy
Szaflik, Jacek P.
Polymorphism of the DNA Base Excision Repair Genes in Keratoconus
title Polymorphism of the DNA Base Excision Repair Genes in Keratoconus
title_full Polymorphism of the DNA Base Excision Repair Genes in Keratoconus
title_fullStr Polymorphism of the DNA Base Excision Repair Genes in Keratoconus
title_full_unstemmed Polymorphism of the DNA Base Excision Repair Genes in Keratoconus
title_short Polymorphism of the DNA Base Excision Repair Genes in Keratoconus
title_sort polymorphism of the dna base excision repair genes in keratoconus
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264133/
https://www.ncbi.nlm.nih.gov/pubmed/25356504
http://dx.doi.org/10.3390/ijms151119682
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