title: Variability of the transferrin receptor 2 gene in AMD.
abstract: 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.
authors.affiliation: Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland.
authors.forename: Daniel
authors.identifier: 0000-0002-4550-8364
authors.initials: D
authors.lastname: Wysokinski
authors.affiliation: Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland.
authors.forename: Janusz
authors.initials: J
authors.lastname: Blasiak
authors.affiliation: Department of Ophthalmology, Medical University of Silesia, Ceglana 35, 40-514 Katowice, Poland.
authors.forename: Mariola
authors.initials: M
authors.lastname: Dorecka
authors.affiliation: Laser Centrum Okulistyczne, ul. Boya 4A/24, 00-621 Warsaw, Poland ; Department of Ophthalmology, Medical University of Warsaw, ul. Lindleya 4, 02-005 Warsaw, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Kowalska
authors.affiliation: Laser Centrum Okulistyczne, ul. Boya 4A/24, 00-621 Warsaw, Poland.
authors.forename: Jacek
authors.identifier: 0000-0001-6725-5428
authors.initials: J
authors.lastname: Robaszkiewicz
authors.affiliation: Department of Developmental Dentistry, Medical University of Lodz, Pomorska 251, 92-216 Lodz, Poland.
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Pawlowska
authors.affiliation: Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-709 Warsaw, Poland.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Szaflik
authors.affiliation: Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Sierakowskiego 13, 03-709 Warsaw, Poland.
authors.forename: Jacek Pawel
authors.initials: JP
authors.lastname: Szaflik
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D057092:Geographic Atrophy / Q000235:genetics*; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011990:Receptors, Transferrin / Q000235:genetics*; D012307:Risk Factors; D057135:Wet Macular Degeneration / Q000235:genetics*
chemical_list: D011990:Receptors, Transferrin; C503640:TFR2 protein, human