Research Article Variability of the Transferrin Receptor 2 Gene in

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 AMDpatients and 171 matched controls were genotyped for the two polymorphisms of theTFR2 gene: c.1892C>T (rs2075674) and c.−258+123T>C (rs4434553).We also assessed themodulation of someAMDrisk factors by these polymorphisms.TheCCandTTgenotypes of the c.1892C>Twere associatedwithAMDoccurrence 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 i