Next Article in Journal
Cell-Surface Receptors Transactivation Mediated by G Protein-Coupled Receptors
Next Article in Special Issue
The Emerging Nexus of Active DNA Demethylation and Mitochondrial Oxidative Metabolism in Post-Mitotic Neurons
Previous Article in Journal
Spectral Analysis of Two Coupled Diatomic Rotor Molecules
Previous Article in Special Issue
The Role of 8-Oxoguanine DNA Glycosylase-1 in Inflammation
Article Menu
Issue 11 (November) cover image

Export Article

Open AccessArticle
Int. J. Mol. Sci. 2014, 15(11), 19682-19699; doi:10.3390/ijms151119682

Polymorphism of the DNA Base Excision Repair Genes in Keratoconus

1
Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland
2
Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic Hospital, Sierakowskiego 13, 03-709 Warsaw, Poland
*
Author to whom correspondence should be addressed.
Received: 5 August 2014 / Revised: 8 October 2014 / Accepted: 16 October 2014 / Published: 29 October 2014
(This article belongs to the Special Issue DNA Damage and Repair in Degenerative Diseases 2014)
View Full-Text   |   Download PDF [720 KB, uploaded 29 October 2014]

Abstract

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. View Full-Text
Keywords: keratoconus; base excision repair; NEIL1; PARP-1; POLG; XRCC1 keratoconus; base excision repair; NEIL1; PARP-1; POLG; XRCC1
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Supplementary material

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Wojcik, K.A.; Synowiec, E.; Sobierajczyk, K.; Izdebska, J.; Blasiak, J.; Szaflik, J.; Szaflik, J.P. Polymorphism of the DNA Base Excision Repair Genes in Keratoconus. Int. J. Mol. Sci. 2014, 15, 19682-19699.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top