从基因组的发现到与年龄相关的听力损失的应用:全球文献计量和跨民族分析
Yang Lu1, Jiawei Shen1, Ka Ho Kairos Sou1
1Division of Psychology, Communication and Human Neuroscience, The University of Manchester, Manchester, United Kingdom.
Frontiers in aging neuroscience
|November 19, 2025
概括
遗传因素显著影响与年龄相关的听力损失 (ARHL). 这项研究揭示了关键的基因和研究趋势,强调在ARHL遗传学研究中需要更广泛的种族代表性.
科学领域:
- 遗传学 是一个遗传学.
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 老年学是指老年学的学科.
背景情况:
- 与年龄相关的听力损失 (ARHL) 显著影响老年人的生活质量.
- 遗传因素对ARHL有很大贡献,遗传概率估计在46%-74%之间.
- 目前的ARHL遗传学研究严重偏向欧洲和北美人口,限制了全球适用性.
研究的目的:
- 系统地绘制研究趋势,并在ARHL遗传学中确定候选基因.
- 分析ARHL遗传学研究的地理分布和主题演变.
- 评估已识别的ARHL候选基因的跨种族一致性.
主要方法:
- 从主要数据库 (PubMed,Embase,Web of Science,Scopus) 中对465个英语出版物 (1995-2025) 的图书统计分析.
- 使用R Bibliometrix,VOSviewer和CiteSpace进行趋势和热点提取.
- 从人类研究中编制的种族信息,用于跨种族的比较分析.
主要成果:
- 在ARHL遗传学出版物的持续增长 (6.83%的年增长率).
- 研究重点从内耳解剖学转移到分子机制 (基因变异,氧化应激,线粒体功能,炎症).
- 确定了56个具有跨种族一致性的基因,包括CDH23,ILDR1和SLC26A5,并突出了像GRHL2这样的特定种族的基因.
结论:
- ARHL遗传学研究显示出不同的地理和主题模式.
- 迫切需要将研究扩展到非欧洲人群中,并促进国际合作.
- 这些发现为通用遗传风险框架和个性化的ARHL干预提供了基础.
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