Department of Otorhinolaryngology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Life Sci. 2013 Mar 21;92(10):541-6. doi: 10.1016/j.lfs.2013.01.019. Epub 2013 Jan 24.
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.
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.
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.
Our study suggests that the variant G allele of AQP5 polymorphism rs3736309 reduces the risk of Ménière's disease.
梅尼埃病和特发性突发性聋（SSNHL）的病因仍不清楚。内耳的水和血液循环的动态平衡对于维持其听力和平衡功能至关重要，水通道蛋白和雌激素参与内耳的液体或离子平衡。我们研究了水通道蛋白 4（AQP4，rs2075575）、水通道蛋白 5（AQP5，rs3736309）和雌激素受体α（ERα1，rs2234693；ERα2，rs9340799）的基因多态性与梅尼埃病或 SSNHL 易感性之间的关系。
我们比较了 86 例梅尼埃病患者、85 例 SSNHL 患者和 2136 名参加全面纵向衰老研究的成年人。
使用 AQP5 多态性，当使用加性遗传模型时，调整年龄和性别后，梅尼埃病的优势比为 0.676（95%置信区间：0.477-0.957）。AQP5 多态性与 SSNHL 无显著风险相关，AQP4、ERα1 和 ERα2 多态性在加性遗传模型中与梅尼埃病或 SSNHL 无显著风险相关，无论是否调整年龄和性别。
我们的研究表明，AQP5 多态性 rs3736309 的 G 等位基因变异降低了梅尼埃病的风险。
