Variability of the Transferrin Receptor 2 Gene in AMD

• Published in: Disease markers 2014-01, Vol.2014 (2014), p.1-8
• Main Authors: Wysokinski, Daniel, Blasiak, Janusz, Dorecka, Mariola, Kowalska, Marta, Robaszkiewicz, Jacek, Pawlowska, Elzbieta, Szaflik, Jerzy, Szaflik, Jacek Pawel
• Format: Article
• Language: English
• Subjects: Aged; Case-Control Studies; Cell receptors; Female; Gene Frequency; Genetic aspects; Genetic Association Studies; Genetic Predisposition to Disease; Geographic Atrophy - genetics; Health aspects; Humans; Macular degeneration; Male; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Receptors, Transferrin - genetics; Risk Factors; Transferrin; Wet Macular Degeneration - genetics
• ISSN: 0278-0240; 1875-8630
• DOI: 10.1155/2014/507356

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 BMIT and c.−258+123T>C polymorphisms of the TRF2 gene may be associated with AMD occurrence, either directly or by modulation of risk factors.