Transferrin receptor levels and polymorphism of its gene in age-related macular degeneration

被引:19
作者
Wysokinski, Daniel [1 ]
Danisz, Katarzyna [1 ]
Pawlowska, Elzbieta [2 ]
Dorecka, Mariola [3 ]
Romaniuk, Dorota [3 ]
Robaszkiewicz, Jacek [4 ]
Szaflik, Marta [4 ,5 ]
Szaflik, Jerzy [6 ,7 ]
Blasiak, Janusz [1 ]
Szaflik, Jacek P. [6 ,7 ]
机构
[1] Univ Lodz, Dept Mol Genet, PL-90131 Lodz, Poland
[2] Med Univ Lodz, Dept Orthodont, Lodz, Poland
[3] Med Univ Silesia, Dept Ophthalmol, Katowice, Poland
[4] Laser Eye Microsurg Ctr, Warsaw, Poland
[5] Med Univ Warsaw, Szpital Dzieciatka Jezus, Dept Ophthalmol, Warsaw, Poland
[6] Med Univ Warsaw, Dept Ophthalmol, Warsaw, Poland
[7] Samodzielny Publ Klin Szpital Okulistyczny, Warsaw, Poland
关键词
AMD; gene polymorphism; iron; oxidative stress; TFRC; transferrin receptor; BEAVER DAM EYE; RISK-FACTORS; IRON HOMEOSTASIS; TERM INCIDENCE; DISEASE; SMOKING; MACULOPATHY; TOXICITY; UPDATE; HERITABILITY;
D O I
10.18388/abp.2014_843
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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/allelerelated 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.
引用
收藏
页码:177 / 184
页数:8
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