Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal Dystrophy
Oxidative stress may play a role in the pathogenesis of keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD). Iron may promote the stress by the Fenton reaction, so its homeostasis should be strictly controlled. Transferrin is essential for iron homeostasis because it transports iron from...
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doaj-94c915b493aa492fad25f31b028768e92020-11-24T22:24:25ZengHindawi LimitedBioMed Research International2314-61332314-61412013-01-01201310.1155/2013/247438247438Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal DystrophyKatarzyna A. Wójcik0Ewelina Synowiec1Manuel P. Jiménez-García2Anna Kaminska3Piotr Polakowski4Janusz Blasiak5Jerzy Szaflik6Jacek P. Szaflik7Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, PolandDepartment of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, PolandDepartment of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, PolandDepartment of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-710 Warsaw, PolandDepartment of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-710 Warsaw, PolandDepartment of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, PolandDepartment of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-710 Warsaw, PolandDepartment of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-710 Warsaw, PolandOxidative stress may play a role in the pathogenesis of keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD). Iron may promote the stress by the Fenton reaction, so its homeostasis should be strictly controlled. Transferrin is essential for iron homeostasis because it transports iron from plasma into cells. The malfunction of transferrin, which may be caused by variation in its gene (TF) variation, may contribute to oxidative stress and change KC and FECD risk. To verify this hypothesis we investigated the association between three polymorphisms of the TF gene, g.3296G>A (rs8177178), g.3481A>G (rs8177179), and c.–2G>A (rs1130459), and KC and FECD occurrence. Genotyping was performed in blood lymphocytes in 216 patients with KC, 130 patients with FECD and 228 controls by PCR-RFLP. We studied also the influence of other risk factors. The A/A genotype and the A allele of the g.3296G>A polymorphism were associated with KC occurrence, while the G allele was negatively correlated with it. We observed a decrease in KC occurrence associated with the A/G genotype of the g.3481A>G polymorphism. We did not find any association between the c.–2G>A polymorphism and KC. No association was found between all three polymorphisms and FECD occurrence.http://dx.doi.org/10.1155/2013/247438 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Katarzyna A. Wójcik Ewelina Synowiec Manuel P. Jiménez-García Anna Kaminska Piotr Polakowski Janusz Blasiak Jerzy Szaflik Jacek P. Szaflik |
spellingShingle |
Katarzyna A. Wójcik Ewelina Synowiec Manuel P. Jiménez-García Anna Kaminska Piotr Polakowski Janusz Blasiak Jerzy Szaflik Jacek P. Szaflik Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal Dystrophy BioMed Research International |
author_facet |
Katarzyna A. Wójcik Ewelina Synowiec Manuel P. Jiménez-García Anna Kaminska Piotr Polakowski Janusz Blasiak Jerzy Szaflik Jacek P. Szaflik |
author_sort |
Katarzyna A. Wójcik |
title |
Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal Dystrophy |
title_short |
Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal Dystrophy |
title_full |
Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal Dystrophy |
title_fullStr |
Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal Dystrophy |
title_full_unstemmed |
Polymorphism of the Transferrin Gene in Eye Diseases: Keratoconus and Fuchs Endothelial Corneal Dystrophy |
title_sort |
polymorphism of the transferrin gene in eye diseases: keratoconus and fuchs endothelial corneal dystrophy |
publisher |
Hindawi Limited |
series |
BioMed Research International |
issn |
2314-6133 2314-6141 |
publishDate |
2013-01-01 |
description |
Oxidative stress may play a role in the pathogenesis of keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD). Iron may promote the stress by the Fenton reaction, so its homeostasis should be strictly controlled. Transferrin is essential for iron homeostasis because it transports iron from plasma into cells. The malfunction of transferrin, which may be caused by variation in its gene (TF) variation, may contribute to oxidative stress and change KC and FECD risk. To verify this hypothesis we investigated the association between three polymorphisms of the TF gene, g.3296G>A (rs8177178), g.3481A>G (rs8177179), and c.–2G>A (rs1130459), and KC and FECD occurrence. Genotyping was performed in blood lymphocytes in 216 patients with KC, 130 patients with FECD and 228 controls by PCR-RFLP. We studied also the influence of other risk factors. The A/A genotype and the A allele of the g.3296G>A polymorphism were associated with KC occurrence, while the G allele was negatively correlated with it. We observed a decrease in KC occurrence associated with the A/G genotype of the g.3481A>G polymorphism. We did not find any association between the c.–2G>A polymorphism and KC. No association was found between all three polymorphisms and FECD occurrence. |
url |
http://dx.doi.org/10.1155/2013/247438 |
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