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Variability of the Transferrin Receptor 2 Gene in AMD
Joint Authors
Blasiak, Janusz
Dorecka, Mariola
Szaflik, Jerzy
Robaszkiewicz, Jacek
Wysokinski, Daniel
Kowalska, Marta
Szaflik, Jacek Pawel
Pawlowska, Elzbieta
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-02-06
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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 BMI<26.
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.
American Psychological Association (APA)
Wysokinski, Daniel& Blasiak, Janusz& Dorecka, Mariola& Kowalska, Marta& Robaszkiewicz, Jacek& Pawlowska, Elzbieta…[et al.]. 2014. Variability of the Transferrin Receptor 2 Gene in AMD. Disease Markers،Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-477138
Modern Language Association (MLA)
Wysokinski, Daniel…[et al.]. Variability of the Transferrin Receptor 2 Gene in AMD. Disease Markers No. 2014 (2014), pp.1-8.
https://search.emarefa.net/detail/BIM-477138
American Medical Association (AMA)
Wysokinski, Daniel& Blasiak, Janusz& Dorecka, Mariola& Kowalska, Marta& Robaszkiewicz, Jacek& Pawlowska, Elzbieta…[et al.]. Variability of the Transferrin Receptor 2 Gene in AMD. Disease Markers. 2014. Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-477138
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-477138