Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration.
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.
Department of Molecular Genetics, University of Lodz, Łódź, Poland.
Daniel
D
Wysokinski
Department of Molecular Genetics, University of Lodz, Łódź, Poland.
Katarzyna
K
Danisz
Department of Orthodontics, Medical University of Lodz, Łódź, Poland.
Elzbieta
E
Pawlowska
Department of Ophthalmology, Medical University of Silesia, Katowice, Poland.
Mariola
M
Dorecka
Department of Ophthalmology, Medical University of Silesia, Katowice, Poland.
Dorota
D
Romaniuk
Laser Eye Microsurgery Center, Warsaw, Poland.
Jacek
J
Robaszkiewicz
Laser Eye Microsurgery Center, Warsaw, Poland; and Department of Ophthalmology, Medical University of Warsaw, Szpital Dzieciątka Jezus, Warsaw, Poland.
Marta
M
Szaflik
Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Warsaw, Poland.
Jerzy
J
Szaflik
Department of Molecular Genetics, University of Lodz, Łódź, Poland.
Janusz
J
Blasiak
Department of Ophthalmology, Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Warsaw, Poland.
Jacek P
JP
Szaflik
D000368:Aged; D000704:Analysis of Variance; D015703:Antigens, CD / Q000097:blood* / Q000235:genetics*; D015992:Body Mass Index; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007501:Iron / Q000097:blood; D008268:Macular Degeneration / Q000097:blood / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011990:Receptors, Transferrin / Q000097:blood* / Q000235:genetics*
D015703:Antigens, CD; C068126:CD71 antigen; D011990:Receptors, Transferrin; D007501:Iron