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

作者: Daniel Wysokinski , Katarzyna Danisz , Elzbieta Pawlowska , Mariola Dorecka , Dorota Romaniuk

DOI: 10.18388/ABP.2014_843

关键词: Restriction fragment length polymorphismGenotypeInternal medicineImmunologyAllele frequencyCase-control studyEndocrinologyBiologyTransferrin receptorGenetic variabilitySoluble transferrin receptorGene polymorphism

摘要: The aim of the present study was to investigate association age related macular degeneration (AMD) risk with some aspects iron homeostasis: concentration in serum, level soluble transferrin receptor (sTfR), and (TFRC) genetic variability. Four hundred ninety one AMD patients 171 controls were enrolled study. Restriction fragment length polymorphism PCR employed genotype polymorphisms TFRC gene, colorimetric assays used determine sTfR. Multiple logistic regression applied for all genotype/allele-related analyses ANOVA test sTfR serum comparison. We found that genotypes alleles c.-253G > A gene associated this modulated by smoking status, family history, living environment (rural/urban), body mass index age. levels higher than controls, whereas concentrations did not differ these two groups. No between occurrence p.Gly142Ser TRFC gene. results obtained suggest variability its may influence risk.

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