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

Katarzyna A. Wójcik, Ewelina Synowiec, Piotr Polakowski, Janusz Błasiak, Jerzy Szaflik, Jacek P. Szaflik

Department of Molecular Genetics, University of Łódź, Łódź, Poland

Med Sci Monit 2015; 21:2809-2827

DOI: 10.12659/MSM.894273

Available online:

Published: 2015-09-21


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, Adult, 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



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