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Polymorphisms of the Homologous Recombination Gene RAD51 in Keratoconus and Fuchs Endothelial Corneal Dystrophy
Joint Authors
Blasiak, Janusz
Wójcik, Katarzyna A.
Synowiec, Ewelina
Szaflik, Jacek P.
Izdebska, Justyna
Binczyk, Ewelina
Szaflik, Jerzy
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-09-25
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Synowiec, Ewelina& Wójcik, Katarzyna A.& Izdebska, Justyna& Binczyk, Ewelina& Blasiak, Janusz& Szaflik, Jerzy…[et al.]. 2013. Polymorphisms of the Homologous Recombination Gene RAD51 in Keratoconus and Fuchs Endothelial Corneal Dystrophy. Disease Markers،Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-1031229
Modern Language Association (MLA)
Synowiec, Ewelina…[et al.]. Polymorphisms of the Homologous Recombination Gene RAD51 in Keratoconus and Fuchs Endothelial Corneal Dystrophy. Disease Markers No. 2013 (2013), pp.1-10.
https://search.emarefa.net/detail/BIM-1031229
American Medical Association (AMA)
Synowiec, Ewelina& Wójcik, Katarzyna A.& Izdebska, Justyna& Binczyk, Ewelina& Blasiak, Janusz& Szaflik, Jerzy…[et al.]. Polymorphisms of the Homologous Recombination Gene RAD51 in Keratoconus and Fuchs Endothelial Corneal Dystrophy. Disease Markers. 2013. Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-1031229
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1031229