Polymorphisms of the Homologous Recombination Gene RAD51 in Keratoconus and Fuchs Endothelial Corneal DystrophyReportar como inadecuado

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Disease MarkersVolume 35 2013, Issue 5, Pages 353–362

Research Article

Department of Molecular Genetics, University of Lodz, Pomorska 141-143, 90-236 Lodz, Poland

Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-710 Warsaw, Poland

Received 11 July 2013; Accepted 28 August 2013

Academic Editor: Yi-Chia Huang

Copyright © 2013 Ewelina Synowiec et al. 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.


Purpose. We investigated the association between genotypes and haplotypes of the c.-61G>T rs 1801320 and c.-98G>C rs 1801321 polymorphisms of the RAD51 gene and the occurrence of keratoconus KC and Fuchs endothelial corneal dystrophy FECD in dependence on some environmental factors. Methods. The polymorphisms were genotyped in peripheral blood lymphocytes of 100 KC and 100 FECD patients as well as 150 controls with PCR-RFLP. Results. The G-T genotype of the c.-61G>T polymorphism was associated with significantly increased frequency occurrence of KC crude OR 2.99, 95% CI 1.75–5.13. On the other hand, the G-G genotype of this polymorphism was positively correlated with a decreased occurrence of this disease crude OR 0.52, 95% CI 0.31–0.88. We did not find any correlation between genotypes-alleles of the c.-98G>C polymorphism and the occurrence of KC. We also found that the G-G genotype and G allele of the c.-98G>C polymorphism had a protective effect against FECD crude OR 0.51, 95% CI 0.28–0.92; crude OR 0.53, 95% CI 0.30–0.92, resp., while the G-C genotype and the C allele increased FECD occurrence crude OR 1.85, 95% CI 1.01–3.36; crude OR 1.90, 95% CI 1.09–3.29, resp

Conclusions. The c.-61T-T and c.-98G>C polymorphisms of the RAD51 gene may have a role in the KC and FECD pathogenesis and can be considered as markers in these diseases.

Autor: Ewelina Synowiec, Katarzyna A. Wojcik, Justyna Izdebska, Ewelina Binczyk, Janusz Blasiak, Jerzy Szaflik, and Jacek P. Szafli

Fuente: https://www.hindawi.com/


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