title: The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss.
abstract: OBJECTIVE
  The common GJB2 (Connexin 26) 35delG mutation might contribute to the development of age-related hearing impairment (ARHI) and noise-induced hearing loss (NIHL).
  
  
  BACKGROUND
  GJB2, a gene encoding a gap junction protein expressed in the inner ear, has been suggested to be involved in the potassium recycling pathway in the cochlea. GJB2 mutations account for a large number of individuals with nonsyndromic recessive hearing loss, with 35delG being the most frequent mutation in populations of European origin. Other genes involved in potassium homeostasis have been suggested to be associated with ARHI and NIHL, and distortion product otoacoustic emission distortions indicative of hearing loss alterations have been found in 35delG carriers.
  
  
  METHODS
  We genotyped 35delG in two distinct sample sets: an ARHI sample set, composed of 2,311 Caucasian samples from nine different centers originating from seven different countries with an age range between 53 and 67 years, and an NIHL sample set consisting of 702 samples from the two extremes of a noise-exposed Polish sample.
  
  
  RESULTS
  After statistical analysis, we were unable to detect an association between 35delG and ARHI, nor between 35delG and NIHL.
  
  
  CONCLUSIONS
  Our findings indicate that there is no increased susceptibility in 35delG carriers for the development of ARHI or NIHL.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Els
authors.initials: E
authors.lastname: Van Eyken
authors.forename: Lut
authors.initials: L
authors.lastname: Van Laer
authors.forename: Erik
authors.initials: E
authors.lastname: Fransen
authors.forename: Vedat
authors.initials: V
authors.lastname: Topsakal
authors.forename: Jan-Jaap
authors.initials: JJ
authors.lastname: Hendrickx
authors.forename: Kelly
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authors.lastname: Demeester
authors.forename: Paul
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authors.lastname: Van de Heyning
authors.forename: Elina
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authors.lastname: Mäki-Torkko
authors.forename: Samuli
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authors.lastname: Hannula
authors.forename: Martti
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authors.lastname: Sorri
authors.forename: Mona
authors.initials: M
authors.lastname: Jensen
authors.forename: Agnete
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authors.lastname: Parving
authors.forename: Michael
authors.initials: M
authors.lastname: Bille
authors.forename: Manuela
authors.initials: M
authors.lastname: Baur
authors.forename: Markus
authors.initials: M
authors.lastname: Pfister
authors.forename: Amanda
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authors.lastname: Bonaconsa
authors.forename: Manuela
authors.initials: M
authors.lastname: Mazzoli
authors.forename: Eva
authors.initials: E
authors.lastname: Orzan
authors.forename: Angeles
authors.initials: A
authors.lastname: Espeso
authors.forename: Dafydd
authors.initials: D
authors.lastname: Stephens
authors.forename: Katia
authors.initials: K
authors.lastname: Verbruggen
authors.forename: Joke
authors.initials: J
authors.lastname: Huyghe
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Dhooge
authors.forename: Patrick
authors.initials: P
authors.lastname: Huygen
authors.forename: Hannie
authors.initials: H
authors.lastname: Kremer
authors.forename: Cor
authors.initials: C
authors.lastname: Cremers
authors.forename: Sylvia
authors.initials: S
authors.lastname: Kunst
authors.forename: Mina
authors.initials: M
authors.lastname: Manninen
authors.forename: Ilmari
authors.initials: I
authors.lastname: Pyykkö
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Rajkowska
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Pawelczyk
authors.forename: Mariola
authors.initials: M
authors.lastname: Sliwinska-Kowalska
authors.forename: Michael
authors.initials: M
authors.lastname: Steffens
authors.forename: Thomas
authors.initials: T
authors.lastname: Wienker
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
mesh_terms: D000368:Aged; D000375:Aging / Q000502:physiology*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003627:Data Interpretation, Statistical; D005060:Europe / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D006317:Hearing Loss, Noise-Induced / Q000235:genetics* / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009784:Occupational Diseases / Q000453:epidemiology / Q000503:physiopathology; D012307:Risk Factors
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26