The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss.
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.
Van Eyken
Els
E
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Van Laer
Lut
L
Fransen
Erik
E
Topsakal
Vedat
V
Hendrickx
Jan-Jaap
JJ
Demeester
Kelly
K
Van de Heyning
Paul
P
Mäki-Torkko
Elina
E
Hannula
Samuli
S
Sorri
Martti
M
Jensen
Mona
M
Parving
Agnete
A
Bille
Michael
M
Baur
Manuela
M
Pfister
Markus
M
Bonaconsa
Amanda
A
Mazzoli
Manuela
M
Orzan
Eva
E
Espeso
Angeles
A
Stephens
Dafydd
D
Verbruggen
Katia
K
Huyghe
Joke
J
Dhooge
Ingeborg
I
Huygen
Patrick
P
Kremer
Hannie
H
Cremers
Cor
C
Kunst
Sylvia
S
Manninen
Mina
M
Pyykkö
Ilmari
I
Rajkowska
Elzbieta
E
Pawelczyk
Malgorzata
M
Sliwinska-Kowalska
Mariola
M
Steffens
Michael
M
Wienker
Thomas
T
Van Camp
Guy
G
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
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26