TY - JOUR
T1 - The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss
AU - Van Eyken, Els
AU - Van Laer, Lut
AU - Fransen, Erik
AU - Topsakal, Vedat
AU - Hendrickx, Jan Jaap
AU - Demeester, Kelly
AU - Van De Heyning, Paul
AU - Mäki-Torkko, Elina
AU - Hannula, Samuli
AU - Sorri, Martti
AU - Jensen, Mona
AU - Parving, Agnete
AU - Bille, Michael
AU - Baur, Manuela
AU - Pfister, Markus
AU - Bonaconsa, Amanda
AU - Mazzoli, Manuela
AU - Orzan, Eva
AU - Espeso, Angeles
AU - Stephens, Dafydd
AU - Verbruggen, Katia
AU - Huyghe, Joke
AU - Dhooge, Ingeborg
AU - Huygen, Patrick
AU - Kremer, Hannie
AU - Cremers, Cor
AU - Kunst, Sylvia
AU - Manninen, Mina
AU - Pyykkö, Ilmari
AU - Rajkowska, Elzbieta
AU - Pawelczyk, Malgorzata
AU - Sliwinska-Kowalska, Mariola
AU - Steffens, Michael
AU - Wienker, Thomas
AU - Van Camp, Guy
PY - 2007/10
Y1 - 2007/10
N2 - HYPOTHESIS: 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. METHOD: 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. CONCLUSION: Our findings indicate that there is no increased susceptibility in 35delG carriers for the development of ARHI or NIHL.
AB - HYPOTHESIS: 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. METHOD: 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. CONCLUSION: Our findings indicate that there is no increased susceptibility in 35delG carriers for the development of ARHI or NIHL.
KW - 35delG
KW - Age-related hearing impairment
KW - Complex disorder
KW - Noise-induced hearing loss
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U2 - 10.197/MAO.0b013e3180dca1b9
DO - 10.197/MAO.0b013e3180dca1b9
M3 - Article
C2 - 17909436
AN - SCOPUS:34848875754
VL - 28
SP - 970
EP - 975
JO - Otology and Neurotology
JF - Otology and Neurotology
SN - 1531-7129
IS - 7
ER -