Next Article in Journal
Simvastatin Attenuates the Oxidative Stress, Endothelial Thrombogenicity and the Inducibility of Atrial Fibrillation in a Rat Model of Ischemic Heart Failure
Previous Article in Journal
Molecular Cloning and Functional Characterization of the Lycopene ε-Cyclase Gene via Virus-Induced Gene Silencing and Its Expression Pattern in Nicotiana tabacum
Article Menu
Issue 8 (August) cover image

Export Article

Open AccessArticle
Int. J. Mol. Sci. 2014, 15(8), 14786-14802; doi:10.3390/ijms150814786

Polymorphism of the Flap Endonuclease 1 Gene in Keratoconus and Fuchs Endothelial Corneal Dystrophy

1
Department of Molecular Genetics, University of Lodz, Pomorska 141/143, Lodz 90-236, Poland
2
Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic Hospital, Sierakowskiego 13, Warsaw 03-709, Poland
3
School of Biosciences, Cardiff University, Museum Avenue, Cardiff, CF10 3AX, United Kingdom, on IESTE training at Department of Molecular Genetics, University of Lodz, Pomorska 141/143, Lodz 90-236, Poland
4
Department of Biology, University of Malta, Msida MSD2080, Malta, on IESTE training at Department of Molecular Genetics, University of Lodz, Pomorska 141/143, Lodz 90-236, Poland
*
Author to whom correspondence should be addressed.
Received: 10 June 2014 / Revised: 9 July 2014 / Accepted: 16 July 2014 / Published: 22 August 2014
(This article belongs to the Section Biochemistry, Molecular and Cellular Biology)
View Full-Text   |   Download PDF [995 KB, uploaded 22 August 2014]   |  

Abstract

Oxidative stress is implicated in the pathogenesis of many diseases, including serious ocular diseases, keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD). Flap endonuclease 1 (FEN1) plays an important role in the repair of oxidative DNA damage in the base excision repair pathway. We determined the association between two single nucleotide polymorphisms (SNPs), c.–441G>A (rs174538) and g.61564299G>T (rs4246215), in the FEN1 gene and the occurrence of KC and FECD. This study involved 279 patients with KC, 225 patients with FECD and 322 control individuals. Polymerase chain reaction (PCR) and length polymorphism restriction fragment analysis (RFLP) were applied. The T/T genotype of the g.61564299G>T polymorphism was associated with an increased occurrence of KC and FECD. There was no association between the c.–441G>A polymorphism and either disease. However, the GG haplotype of both polymorphisms was observed more frequently and the GT haplotype less frequently in the KC group than the control. The AG haplotype was associated with increased FECD occurrence. Our findings suggest that the g.61564299G>T and c.–441G>A polymorphisms in the FEN1 gene may modulate the risk of keratoconus and Fuchs endothelial corneal dystrophy. View Full-Text
Keywords: keratoconus; Fuchs endothelial corneal dystrophy; flap endonuclease 1; DNA repair keratoconus; Fuchs endothelial corneal dystrophy; flap endonuclease 1; DNA repair
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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.; Polakowski, P.; Głowacki, S.; Izdebska, J.; Lloyd, S.; Galea, D.; Blasiak, J.; Szaflik, J.; Szaflik, J.P. Polymorphism of the Flap Endonuclease 1 Gene in Keratoconus and Fuchs Endothelial Corneal Dystrophy. Int. J. Mol. Sci. 2014, 15, 14786-14802.

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