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- Title
Polymorphisms of the Homologous Recombination Gene RAD51 in Keratoconus and Fuchs Endothelial Corneal Dystrophy.
- Authors
Synowiec, Ewelina; Wojcik, Katarzyna A.; Izdebska, Justyna; Binczyk, Ewelina; Blasiak, Janusz; Szaflik, Jerzy; Szaflik, Jacek P.
- Abstract
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 100KC 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.
- Subjects
KERATOCONUS; CORNEA diseases; HAPLOTYPES; GENE expression; GENETIC polymorphisms
- Publication
Disease Markers, 2013, Vol 35, Issue 5, p353
- ISSN
0278-0240
- Publication type
Article
- DOI
10.1155/2013/851817