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

• Authors: Daniel Wysokinski , Katarzyna Danisz , Elzbieta Pawlowska , Mariola Dorecka , Dorota Romaniuk , Jacek Robaszkiewicz , Marta Szaflik , Jerzy Szaflik , Janusz Blasiak , Jacek Szaflik
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

AMD; gene polymorphism; iron; oxidative stress; TFRC; transferrin receptor

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2015
• Volume: 62
• Issue: 2
• Pages: 177-184

Dates

published

2015

received

2014-06-17

revised

2014-10-15

accepted

2015-03-08

(unknown)

2015-04-27

Contributors

author

Daniel Wysokinski

• Department of Molecular Genetics, University of Lodz, Łódź, Poland

author

Katarzyna Danisz

• Department of Molecular Genetics, University of Lodz, Łódź, Poland

author

Elzbieta Pawlowska

• Department of Orthodontics, Medical University of Lodz, Łódź, Poland

author

Mariola Dorecka

• Department of Ophthalmology, Medical University of Silesia, Katowice, Poland

author

Dorota Romaniuk

• Department of Ophthalmology, Medical University of Silesia, Katowice, Poland

author

Jacek Robaszkiewicz

• Laser Eye Microsurgery Center, Warsaw, Poland

author

Marta Szaflik

• Laser Eye Microsurgery Center, Warsaw, Poland
• Department of Ophthalmology, Medical University of Warsaw, Szpital Dzieciątka Jezus, Warsaw, Poland

author

Jerzy Szaflik

• Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Warsaw, Poland

author

Janusz Blasiak

• Department of Molecular Genetics, University of Lodz, Łódź, Poland

author

Jacek Szaflik

• Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Warsaw, Poland

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Identifiers

DOI

10.18388/abp.2014_843