Phillips Susan L, Richter Scott J, Teglas Sandra L, Bhatt Ishan S, Morehouse Robin C, Hauser Elizabeth R, Henrich Vincent C
a * Communication Sciences & Disorders, University of North Carolina at Greensboro , USA.
b Math & Statistics, University of North Carolina at Greensboro , USA.
Int J Audiol. 2015;54(10):645-52. doi: 10.3109/14992027.2015.1030512. Epub 2015 May 4.
Noise-induced hearing loss (NIHL) is a worldwide health problem and a growing concern among young people. Although some people appear to be more susceptible to NIHL, genetic association studies lack a specific phenotype. We tested the feasibility of a bilateral 4000-6000 Hz audiometric notch as a phenotype for identifying genetic contributions to hearing loss in young adults.
A case-control-control study was conducted to examine selected SNPs in 52 genes previously associated with hearing loss and/or expressed in the cochlea. A notch was defined as a minimum of a 15-dB drop at 4000-6000 Hz from the previous best threshold with a 5-dB 'recovery' at 8000 Hz.
Participants were 252 individuals of European descent taken from a population of 640 young adults who are students of classical music. Participants were grouped as No-notch (NN), Unilateral Notch (UN), or Bilateral Notch (BN).
The strongest evidence of a genetic association with the 4000-6000 Hz notch was a nonsynonymous SNP variant in the ESRR- gene (rs61742642:C> T, P386S). Carriers of the minor allele accounted for 26% of all bilateral losses.
This study indicates that the 4000-6000 Hz bilateral notch is a feasible phenotype for identifying genetic susceptibility to hearing loss.
噪声性听力损失（NIHL）是一个全球性的健康问题，且在年轻人中日益受到关注。尽管有些人似乎更容易患噪声性听力损失，但基因关联研究缺乏特定的表型。我们测试了双侧4000 - 6000赫兹听力计切迹作为一种表型来识别年轻人听力损失的遗传因素的可行性。
进行了一项病例 - 对照 - 对照研究，以检测先前与听力损失相关和/或在耳蜗中表达的52个基因中的特定单核苷酸多态性（SNP）。切迹定义为在4000 - 6000赫兹处相对于先前最佳阈值至少下降15分贝，在8000赫兹处有5分贝的“恢复”。
参与者是从640名学习古典音乐的年轻成年人中选取的252名欧洲血统个体。参与者被分为无切迹（NN）、单侧切迹（UN）或双侧切迹（BN）组。
与4000 - 6000赫兹切迹存在最强基因关联证据的是ESRR - 基因中的一个非同义SNP变体（rs61742642：C>T，P386S）。次要等位基因的携带者占所有双侧听力损失的26%。
本研究表明，4000 - 6000赫兹双侧切迹是识别听力损失遗传易感性的一种可行表型。
