title: Is DFNA5 a susceptibility gene for age-related hearing impairment?
abstract: A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment (ARHI). The hearing loss is sensorineural, progressive and starts at the high frequencies. As DFNA5 was considered an excellent candidate ARHI susceptibility gene, we performed linkage analysis to a quantitive measure of high frequency hearing loss. However, no significant linkage between ARHI and microsatellite markers from the DFNA5 region could be detected. Subsequently, the DFNA5 coding region was analysed for single nucleotide polymorphisms (SNPs). Two SNPs leading to amino-acid substitutions (P142H and V207M) were selected for further analysis. Using these SNPs, an association study based on a collection of random individuals, and a case-control association study were performed. No significant differences in genotypes between good hearing and hearing impaired individuals could be detected in either study design. We conclude that there exists no strong association between DFNA5 and ARHI.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Lut
authors.initials: L
authors.lastname: Van Laer
authors.forename: Anita L
authors.initials: AL
authors.lastname: DeStefano
authors.forename: Richard H
authors.initials: RH
authors.lastname: Myers
authors.forename: Kris
authors.initials: K
authors.lastname: Flothmann
authors.forename: Sofie
authors.initials: S
authors.lastname: Thys
authors.forename: Erik
authors.initials: E
authors.lastname: Fransen
authors.forename: George A
authors.initials: GA
authors.lastname: Gates
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
authors.forename: Clinton T
authors.initials: CT
authors.lastname: Baldwin
mesh_terms: D000375:Aging / Q000235:genetics / Q000502:physiology*; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D040641:Quantitative Trait Loci; D011960:Receptors, Estrogen; D000094524:Gasdermins
chemical_list: D002352:Carrier Proteins; D011960:Receptors, Estrogen; C111432:GSDME protein, human; D000094524:Gasdermins