Otol Neurotol:青年音乐家中候选基因多态性与耳鸣的相关性分析

2021-08-04 AlexYang MedSci原创

主观性耳鸣是一种幻觉性声音的感知,是一种常见的耳科疾病,影响了近15%的普通人群。众所周知,噪音诱导的听力损失(NIHL)和耳鸣在暴露于强烈噪音和音乐的个体中表现出高水平的共病性。然而,

主观性耳鸣是一种幻觉性声音的感知,是一种常见的耳科疾病,影响了近15%的普通人群。众所周知,噪音诱导的听力损失(NIHL)和耳鸣在暴露于强烈噪音和音乐的个体中表现出高水平的共病性。然而,与NIHL相关的遗传变异对耳鸣的影响仍然是未知的

近期,有研究人员假设携带与NIHL相关基因变异的年轻音乐家比他们的同龄人更容易出现耳鸣

为了验证上述假设,研究人员分析了Bhatt et al.(2020)(最初由Phillips et al. 开发,2015)的数据库,该数据库调查了年轻的大学时代音乐家与NIHL的遗传联系。研究共鉴定了186名受试者(平均年龄20.3岁,范围18-25岁),鼓室测量和耳镜检查均正常,无缺失数据。研究人员在13个耳蜗基因中纳入了19个单核苷酸多态性,这些基因之前报道与NIHL相关。候选基因包括:KCNE1、KCNQ1、CDH23、GJB2、GJB4、KCNJ10、CAT、HSP70、PCDH70、MYH14、GRM7、PON2和ESRRB。

结果发现,与携带rs163171主要等位基因的个体相比,KCNQ1中至少有一个rs163171次要等位基因(C>T)的个体报告耳鸣的几率明显更高。KCNE1 rs2070358显示与耳鸣有暗示性的关联(p=0.049),但FDR校正后的p值没有达到统计学显著意义(p<0.05)。耳部感染史和声级耐受性与耳鸣有统计学上的显著联系。音乐接触显示出与耳鸣有暗示性的关联趋势。生物性别显示与畸变产物耳声发射SNR测量有统计学上的显著联系。

携带KCNE1 rs163171主要和次要等位基因个体的耳鸣患病情况。黑色,无耳鸣;灰色,有耳鸣

综上所述,KCNQ1/KCNE1电压门控钾离子通道在NIHL和耳鸣的发病机制中起着关键作用。需要进一步的研究来构建临床工具,以便在患上NIHL和耳鸣之前就能识别有遗传倾向的个体

原始出处:

Ishan Sunilkumar Bhatt, Raquel Dias, Ali Torkamani. Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians. Otol Neurotol. Jul 2021

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    2021-08-06 weiz
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    2021-08-06 xzw120

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