Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration.

  • Daniel Wysokinski Department of Molecular Genetics, University of Lodz, Łódź, Poland.;
  • Katarzyna Danisz Department of Molecular Genetics, University of Lodz, Łódź, Poland.;
  • Elzbieta Pawlowska Department of Orthodontics, Medical University of Lodz, Łódź, Poland.;
  • Mariola Dorecka Department of Ophthalmology, Medical University of Silesia, Katowice, Poland.;
  • Dorota Romaniuk Department of Ophthalmology, Medical University of Silesia, Katowice, Poland.;
  • Jacek Robaszkiewicz Laser Eye Microsurgery Center, Warsaw, Poland.;
  • Marta Szaflik Laser Eye Microsurgery Center, Warsaw, Poland; and Department of Ophthalmology, Medical University of Warsaw, Szpital Dzieciątka Jezus, Warsaw, Poland.;
  • Jerzy Szaflik Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Warsaw, Poland.;
  • Janusz Blasiak Department of Molecular Genetics, University of Lodz, Łódź, Poland.;
  • Jacek P Szaflik Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Warsaw, Poland.;

Abstract

The aim of the present study was to investigate the association of age related macular degeneration (AMD) risk with some aspects of iron homeostasis: iron concentration in serum, level of soluble transferrin receptor (sTfR), and transferrin receptor (TFRC) genetic variability. Four hundred and ninety one AMD patients and 171 controls were enrolled in the study. Restriction fragment length polymorphism PCR was employed to genotype polymorphisms of the TFRC gene, and colorimetric assays were used to determine the level of iron and sTfR. Multiple logistic regression was applied for all genotype/allele-related analyses and the ANOVA test for iron and sTfR serum level comparison. We found that the genotypes and alleles of the c.-253G > A polymorphism of the TFRC gene were associated with AMD risk and this association was modulated by smoking status, AMD family history, living environment (rural/urban), body mass index and age. The levels of sTfR was higher in AMD patients than controls, whereas concentrations of iron did not differ in these two groups. No association was found between AMD occurrence and the p.Gly142Ser polymorphism of the TRFC gene. The results obtained suggest that transferrin receptor and variability of its gene may influence AMD risk.
Published
2015-04-27
Issue
Vol. 62 No. 2 (2015)
Section
Articles

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