Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

21 September 2015 : Laboratory Research  

Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal Dystrophy

Katarzyna A. WójcikBCDEF, Ewelina SynowiecBCDF, Piotr PolakowskiD, Janusz BłasiakAEF, Jerzy SzaflikAFG, Jacek P. SzaflikAEG

DOI: 10.12659/MSM.894273

Med Sci Monit 2015; 21:2809-2827


BACKGROUND: Fuchs endothelial corneal dystrophy (FECD) is a corneal disease characterized by abnormalities in the Descemet membrane and the corneal endothelium. The etiology of this disease is poorly understood. An increased level of oxidative DNA damage reported in FECD corneas suggests a role of DNA base excision repair (BER) genes in its pathogenesis. In this work, we searched for the association between variation of the PARP-1, NEIL1, POLG, and XRCC1 genes and FECD occurrence.

MATERIAL AND METHODS: This study was conducted on 250 FECD patients and 353 controls using polymerase chain reaction-restriction fragment length polymorphism, high-resolution melting analysis, and the TaqMan® SNP Genotyping Assay.

RESULTS: We observed that the A/A genotype and the A allele of the c.1196A>G polymorphism of the XRCC1 gene were positively correlated with an increased FECD occurrence, whereas the G allele had the opposite effect. A weak association between the C/G genotype of the g.46438521G>C polymorphism of the NEIL1 gene and an increased incidence of FECD was also detected. Haplotypes of both polymorphisms of the XRCC1 were associated with FECD occurrence. No association of the c.2285T>C, c.–1370T>A and c.580C>T polymorphisms of the PARP-1, POLG and XRCC1 genes, respectively, with FECD occurrence was observed.

CONCLUSIONS: Our results suggest that the c.1196A>G polymorphism in the XRCC1 gene may be an independent genetic risk factor for FECD.

Keywords: Aged, 80 and over, Case-Control Studies, DNA Glycosylases - genetics, DNA Repair, DNA-Binding Proteins - genetics, DNA-Directed DNA Polymerase - genetics, Fuchs' Endothelial Dystrophy - genetics, Gene Frequency, Genetic Predisposition to Disease, Genotype, Poly(ADP-ribose) Polymerases - genetics, Polymorphism, Single Nucleotide, Sequence Analysis, DNA

Add Comment 0 Comments


01 July 2024 : Editorial  

Editorial: The Global Threats of Increasing Antimicrobial Resistance Require New Approaches to Drug Development, Including Molecular Antimicrobial Adjuvants

Dinah V. Parums

DOI: 10.12659/MSM.945583

Med Sci Monit 2024; 30:e945583


In Press

Clinical Research  

Impact of Denture Use on Oral Health-Related Quality of Life in Yemeni Patients: A Cross-Sectional Analysis

Med Sci Monit In Press; DOI: 10.12659/MSM.944682  


Clinical Research  

Minimally Invasive versus Traditional Surgery: Efficacy of PELD and PLIF in Treating Pyogenic Spondylodiscitis

Med Sci Monit In Press; DOI: 10.12659/MSM.943176  

Clinical Research  

Frontal Plane Body Posture as a Predictor of Musculoskeletal Injuries in Amateur Athletes: A Comprehensive ...

Med Sci Monit In Press; DOI: 10.12659/MSM.944810  

Clinical Research  

Cost-Effectiveness Analysis of Hepatic Arterial Chemotherapy for Advanced Hepatocellular Carcinoma in China...

Med Sci Monit In Press; DOI: 10.12659/MSM.944526  

Most Viewed Current Articles

17 Jan 2024 : Review article   3,946,685

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799


14 Dec 2022 : Clinical Research   1,585,626

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990


16 May 2023 : Clinical Research   690,924

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387


01 Jan 2022 : Editorial   50,763

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952


Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750