Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis.
Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis.
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DOI：
10.3109/14992027.2015.1030512
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发表时间：
2015
影响因子：
2.7
通讯作者：
Henrich VC
中科院分区：
文献类型：
--
作者：
Phillips SL;Richter SJ;Teglas SL;Bhatt IS;Morehouse RC;Hauser ER;Henrich VC
噪声性听力损失（NIHL）是一个全球性的健康问题，也是年轻人日益关注的问题。虽然有些人似乎更容易患NIHL，但遗传关联研究缺乏特定的表型。我们测试了双侧4000-6000 Hz测听切迹作为识别年轻人听力损失遗传贡献的表型的可行性。进行了一项病例-对照-对照研究，以检查先前与听力损失相关和/或在耳蜗中表达的52个基因中的选定SNP。陷波被定义为在4000-6000 Hz时从先前的最佳阈值至少下降15 dB，在8000 Hz时“恢复”5 dB。参与者是252名欧洲血统的人，他们来自640名学习古典音乐的年轻人。参与者分为无切迹（NN），单侧切迹（UN）或双侧切迹（BN）。与4000-6000 Hz缺口的遗传关联的最强有力的证据是ESRR中的非同义SNP变体。基因（rs61742642：C>T，P386 S）。次要等位基因携带者占所有双侧丢失的26%。这项研究表明，4000-6000 Hz的双边切迹是一个可行的表型识别遗传易感性听力损失。
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.