Sudden sensorineural hearing loss and polymorphisms in iron homeostasis genes: New insights from a case-control study

Autor: Alessandro Castiglione, Giulia Zeri, Claudia Aimoni, Andrea Ciorba, Elisa Orioli, Donato Gemmati, Marco Vigliano
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Genetics and Molecular Biology (all)
Immunology and Microbiology (all)
Ferroportin
cochlea
calcium-channels
lcsh:Medicine
Sensorineural
Biochemistry
Polymorphism (computer science)
Genotype
80 and over
Homeostasis
risk-factors
Promoter Regions
Genetic
Child
Cation Transport Proteins
ferroportin
chemistry.chemical_classification
Aged
80 and over
Medicine (all)
Homozygote
Transferrin
Kidney proximal tubule
General Medicine
Middle Aged
hereditary hemochromatosis
transporter 1 dmt1
stria-vascularis
pendred-syndrome
expression
Adolescent
Adult
Aged
Case-Control Studies
Hearing Loss
Sensorineural
Hemochromatosis Protein
Hepcidins
Histocompatibility Antigens Class I
Humans
Iron
Membrane Proteins
Polymorphism
Genetic
Young Adult
Biochemistry
Genetics and Molecular Biology (all)
HAMP
Research Article
Article Subject
Socio-culturale
Biology
General Biochemistry
Genetics and Molecular Biology
Promoter Regions
Genetic
Hepcidin
Polymorphism
Hearing Loss
Hereditary Hemochromatosis Protein
General Immunology and Microbiology
lcsh:R
Case-control study
chemistry
Immunology
biology.protein
Zdroj: BioMed Research International
BioMed Research International, Vol 2015 (2015)
Popis: Background. Even if various pathophysiological events have been proposed as explanations, the putative cause of sudden hearing loss remains unclear.Objectives. To investigate and to reveal associations (if any) between the main iron-related gene variants and idiopathic sudden sensorineural hearing loss.Study Design. Case-control study.Materials and Methods. A total of 200 sudden sensorineural hearing loss patients (median age 63.65 years; range 10–92) were compared with 400 healthy control subjects. The following genetic variants were investigated: the polymorphism c.−8CG in the promoter of the ferroportin gene (FPN1;SLC40A1), the two isoforms C1 and C2 (p.P570S) of the transferrin protein (TF), the amino acidic substitutions p.H63D and p.C282Y in the hereditary hemochromatosis protein (HFE), and the polymorphism c.–582AG in the promoter of theHEPCgene, which encodes the protein hepcidin (HAMP).Results. The homozygous genotype c.−8GG of theSLC40A1gene revealed an OR for ISSNHL risk of 4.27 (CI 95%, 2.65–6.89;P=0.001), being overrepresented among cases.Conclusions. Our study indicates that the homozygous genotypeFPN1−8GG was significantly associated with increased risk of developing sudden hearing loss. These findings suggest new research should be conducted in the field of iron homeostasis in the inner ear.
Databáze: OpenAIRE
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