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Disease Markers
Volume 2014, Article ID 507356, 8 pages
Research Article

Variability of the Transferrin Receptor 2 Gene in AMD

1Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland
2Department of Ophthalmology, Medical University of Silesia, Ceglana 35, 40-514 Katowice, Poland
3Laser Centrum Okulistyczne, ul. Boya 4A/24, 00-621 Warsaw, Poland
4Department of Ophthalmology, Medical University of Warsaw, ul. Lindleya 4, 02-005 Warsaw, Poland
5Department of Developmental Dentistry, Medical University of Lodz, Pomorska 251, 92-216 Lodz, Poland
6Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-709 Warsaw, Poland

Received 24 October 2013; Accepted 17 December 2013; Published 6 February 2014

Academic Editor: Fabrizia Bamonti

Copyright © 2014 Daniel Wysokinski 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.


Oxidative stress is a major factor in the pathogenesis of age-related macular degeneration (AMD). Iron may catalyze the Fenton reaction resulting in overproduction of reactive oxygen species. Transferrin receptor 2 plays a critical role in iron homeostasis and variability in its gene may influence oxidative stress and AMD occurrence. To verify this hypothesis we assessed the association between polymorphisms of the TFR2 gene and AMD. A total of 493 AMD patients and 171 matched controls were genotyped for the two polymorphisms of the TFR2 gene: c.1892C>T (rs2075674) and c.−258+123T>C (rs4434553). We also assessed the modulation of some AMD risk factors by these polymorphisms. The CC and TT genotypes of the c.1892C>T were associated with AMD occurrence but the latter only in obese patients. The other polymorphism was not associated with AMD occurrence, but the CC genotype was correlated with an increasing AMD frequency in subjects with . The TT genotype and the T allele of this polymorphism decreased AMD occurrence in subjects above 72 years, whereas the TC genotype and the C allele increased occurrence of AMD in this group. The c.1892C>T and c.−258+123T>C polymorphisms of the TRF2 gene may be associated with AMD occurrence, either directly or by modulation of risk factors.