Age‐related hearing loss (ARHL) has recently been confirmed as a common complex trait, that is, it is heritable with many genetic variants each contributing a small amount of risk, as well as environmental determinants. Historically, attempts to identify the genetic variants underlying the ARHL have been of limited success, relying on the selection of candidate genes based on the limited knowledge of the pathophysiology of the condition, and linkage studies in samples comprising related individuals. More recently genome‐wide association studies have been performed, but these require very large samples having consistent and reliable phenotyping for hearing loss (HL), and early attempts suffered from lack of reliable replication of their findings. Replicated variants shown associated with ARHL include those lying in genes GRM7, ISG20, TRIOBP, ILDR1, and EYA4. The availability of large biobanks and the development of collaborative consortia have led to a breakthrough over the last couple of years, and many new genetic variants associated with ARHL are becoming available, through the analysis publicly available bioresources and electronic health records. These findings along with immunohistochemistry and mouse models of HL look set to help disentangle the genetic architecture of ARHL, and highlight the need for standardization of phenotyping methods to facilitate data sharing and collaboration across research networks.

中文翻译：

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与年龄相关的听力损失的遗传学。

年龄相关性听力损失 (ARHL) 最近已被证实是一种常见的复杂性状，也就是说，它是可遗传的，有许多遗传变异，每个变异都会造成少量风险，以及环境决定因素。从历史上看，识别 ARHL 基因变异的尝试取得了有限的成功，依赖于基于对该病的病理生理学知识有限的候选基因的选择，以及对包含相关个体的样本的连锁研究。最近已经进行了全基因组关联研究，但这些研究需要非常大的样本，这些样本具有一致且可靠的听力损失 (HL) 表型，并且早期的尝试因缺乏对其发现的可靠复制而受到影响。与 ARHL 相关的复制变体包括位于基因中的变体GRM7、ISG20、TRIOBP、ILDR1和EYA4。大型生物库的可用性和合作联盟的发展在过去几年中取得了突破，并且通过分析公开可用的生物资源和电子健康记录，许多与 ARHL 相关的新基因变体变得可用。这些发现连同 HL 的免疫组织化学和小鼠模型看起来将有助于解开 ARHL 的遗传结构，并强调表型分析方法标准化的必要性，以促进跨研究网络的数据共享和协作。