title: Sudden sensorineural hearing loss and polymorphisms in iron homeostasis genes: new insights from a case-control study.
abstract: 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 the HEPC gene, which encodes the protein hepcidin (HAMP). Results. The homozygous genotype c.-8GG of the SLC40A1 gene 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 genotype FPN1 -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.
authors: Department of Neurosciences-Complex Operative Unit of Otorhinolaryngology and Otosurgery, University Hospital of Padua, Via Giustiniani 2, 35128 Padua, Italy.
authors: Alessandro
authors: 0000-0002-5776-0444
authors: A
authors: Castiglione
authors: ENT & Audiology Department, University Hospital of Ferrara, Via Aldo Moro 8, 44124 Cona, Ferrara, Italy.
authors: Andrea
authors: A
authors: Ciorba
authors: ENT & Audiology Department, University Hospital of Ferrara, Via Aldo Moro 8, 44124 Cona, Ferrara, Italy.
authors: Claudia
authors: C
authors: Aimoni
authors: Centre for Haemostasis & Thrombosis, Haematology Section, Department of Medical Sciences, University of Ferrara, 44100 Ferrara, Italy.
authors: Elisa
authors: E
authors: Orioli
authors: Centre for Haemostasis & Thrombosis, Haematology Section, Department of Medical Sciences, University of Ferrara, 44100 Ferrara, Italy.
authors: Giulia
authors: G
authors: Zeri
authors: Centre for Haemostasis & Thrombosis, Haematology Section, Department of Medical Sciences, University of Ferrara, 44100 Ferrara, Italy.
authors: Marco
authors: M
authors: Vigliano
authors: Centre for Haemostasis & Thrombosis, Haematology Section, Department of Medical Sciences, University of Ferrara, 44100 Ferrara, Italy.
authors: Donato
authors: D
authors: Gemmati
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D027682:Cation Transport Proteins / Q000235:genetics; D002648:Child; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000378:metabolism; D000071020:Hemochromatosis Protein; D064451:Hepcidins / Q000235:genetics; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006706:Homeostasis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D014168:Transferrin / Q000235:genetics; D055815:Young Adult; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; C578702:HAMP protein, human; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D000098742:Ferroportin; D007501:Iron