Polymorphisms in genes encoding aquaporins 4 and 5 and estrogen receptor α in patients with Ménière's disease and sudden sensorineural hearing loss.
OBJECTIVE
The etiologies of Ménière's disease and idiopathic sudden sensorineural hearing loss (SSNHL) remain unclear. The homeostasis of the water and blood circulation in the inner ear is essential for maintaining its hearing and equilibrium functions, and aquaporins and estrogen are involved in the fluid or ion balance in the inner ear. We investigated the associations between genetic polymorphisms in aquaporin 4 (AQP4, rs2075575), aquaporin 5 (AQP5, rs3736309), and estrogen receptor α (ERα1, rs2234693; ERα2, rs9340799) and susceptibility to Ménière's disease or SSNHL.


METHODS
We compared 86 patients affected by Ménière's disease, 85 patients affected by SSNHL, and 2136 adults who were participants in a comprehensive longitudinal study of aging.


RESULTS
With the AQP5 polymorphism, the odds ratio for Ménière's disease was 0.676 (95% confidence interval: 0.477-0.957) after adjustment for age and sex, when an additive genetic model was used. The AQP5 polymorphism entailed no significant risk of SSNHL and the polymorphisms of AQP4, ERα1, and ERα2 entailed no significant risk of Ménière's disease or SSNHL in the additive genetic model, regardless of adjustments for age and sex.


CONCLUSIONS
Our study suggests that the variant G allele of AQP5 polymorphism rs3736309 reduces the risk of Ménière's disease.
Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, Nagoya, Japan. naokin@med.nagoya-u.ac.jp
Naoki
N
Nishio
Masaaki
M
Teranishi
Yasue
Y
Uchida
Saiko
S
Sugiura
Fujiko
F
Ando
Hiroshi
H
Shimokata
Michihiko
M
Sone
Hironao
H
Otake
Ken
K
Kato
Tadao
T
Yoshida
Mitsuhiko
M
Tagaya
Tatsuya
T
Hibi
Tsutomu
T
Nakashima
D000328:Adult; D000368:Aged; D051401:Aquaporin 4 / Q000235:genetics*; D051402:Aquaporin 5 / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D031541:Fluorescence Resonance Energy Transfer; D005787:Gene Frequency; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006320:Hearing Tests; D006801:Humans; D016015:Logistic Models; D008297:Male; D008575:Meniere Disease / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D051401:Aquaporin 4; D051402:Aquaporin 5; D017931:DNA Primers; D047628:Estrogen Receptor alpha