Department of Communication Sciences & Disorders, Northern Arizona University, Flagstaff, Arizona.
Scripps Research Translational Institute, La Jolla, California.
Otol Neurotol. 2020 Jun;41(5):e538-e547. doi: 10.1097/MAO.0000000000002615.
This study aimed to investigate the association between candidate genetic variants and audiometric measures of noise-induced hearing loss (NIHL) in young musicians.
The study analyzed a database by Phillips et al. (Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis. Int J Audiol 2015;54:645-52.) which included behavioral hearing thresholds, distortion-product otoacoustic emissions (DPOAE), tympanometric, and genetic data of 166 participants meeting the inclusion criteria. Nineteen single nucleotide polymorphisms (SNPs) in 13 cochlear genes previously associated with NIHL in factory workers were included in the present investigation. The average hearing threshold at 3000 and 4000 Hz (AHT) and average DPOAE signal to noise ratio (DPOAE SNR) in both ears were calculated.
The regression analyses showed that two SNPs- one in KCNE1 (rs2070358) and the other in CAT (rs12273124) revealed a statistically significant relationship with DPOAE SNR in both ears. Two SNPs in MYH14 and one in GJB4 revealed a significant association with DPOAE SNR in the left ear. Two SNPs in HSP70, one in CDH23 and one in KCNJ10 showed significant association with DPOAE SNR in the right ear. None of the included SNPs showed association with AHT in both ears.
A genetic variant in KCNE1 was associated with the strength of the cochlear amplifier as assessed by DPOAE SNR. Musicians carrying causal genetic variants to NIHL might exhibit changes in their auditory functions early in the lifespan even when most subjects had their hearing thresholds within normal limits. These participants are likely to show the clinical manifestation of NIHL in the future if no preventive measures are applied.
本研究旨在探讨候选基因变异与年轻音乐家噪声性听力损失（NIHL）的听力测量值之间的关联。
本研究分析了 Phillips 等人的数据库（双侧 4000-6000Hz 切迹作为遗传关联分析的表型的可行性。国际听力杂志 2015；54:645-52.），其中包括符合纳入标准的 166 名参与者的行为听力阈值、畸变产物耳声发射（DPOAE）、鼓室图和遗传数据。本研究纳入了先前与工厂工人的 NIHL 相关的 13 个耳蜗基因中的 19 个单核苷酸多态性（SNP）。计算双耳的平均 3000Hz 和 4000Hz 听力阈值（AHT）和平均 DPOAE 信噪比（DPOAE SNR）。
回归分析显示，两个 SNP-一个在 KCNE1（rs2070358），另一个在 CAT（rs12273124），与双耳的 DPOAE SNR 存在统计学显著关系。MYH14 中的两个 SNP 和 GJB4 中的一个 SNP 与左耳的 DPOAE SNR 有显著关联。HSP70 中的两个 SNP、CDH23 中的一个 SNP 和 KCNJ10 中的一个 SNP 与右耳的 DPOAE SNR 有显著关联。纳入的 SNP 均与双耳 AHT 无关联。
KCNE1 中的遗传变异与 DPOAE SNR 评估的耳蜗放大器强度相关。携带导致 NIHL 的因果遗传变异的音乐家，即使大多数受试者的听力阈值在正常范围内，其听觉功能也可能在生命早期发生变化。如果不采取预防措施，这些参与者将来很可能会出现 NIHL 的临床表现。
