Wysokinski Daniel, Danisz Katarzyna, Pawlowska Elzbieta, Dorecka Mariola, Romaniuk Dorota, Robaszkiewicz Jacek, Szaflik Marta, Szaflik Jerzy, Blasiak Janusz, Szaflik Jacek P
Department of Molecular Genetics, University of Lodz, Łódź, Poland.
Department of Orthodontics, Medical University of Lodz, Łódź, Poland.
Acta Biochim Pol. 2015;62(2):177-84. doi: 10.18388/abp.2014_843. Epub 2015 Apr 27.
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.
本研究的目的是调查年龄相关性黄斑变性（AMD）风险与铁稳态某些方面的关联：血清铁浓度、可溶性转铁蛋白受体（sTfR）水平以及转铁蛋白受体（TFRC）基因变异性。491例AMD患者和171例对照纳入本研究。采用限制性片段长度多态性PCR对TFRC基因多态性进行基因分型，采用比色法测定铁和sTfR水平。对所有与基因型/等位基因相关的分析应用多元逻辑回归，对铁和sTfR血清水平比较应用方差分析。我们发现，TFRC基因c.-253G>A多态性的基因型和等位基因与AMD风险相关，且这种关联受吸烟状况、AMD家族史、生活环境（农村/城市）、体重指数和年龄的调节。AMD患者的sTfR水平高于对照组，而两组的铁浓度无差异。未发现AMD发生与TRFC基因p.Gly142Ser多态性之间存在关联。所得结果表明，转铁蛋白受体及其基因变异性可能影响AMD风险。
