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后天性感觉神经性听力损失的遗传学

Genetics of Postlingual Sensorineural Hearing Loss.

机构信息

Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.

Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

出版信息

Laryngoscope. 2021 Feb;131(2):401-409. doi: 10.1002/lary.28646. Epub 2020 Apr 3.

Abstract

Literature and clinical practice around adult-onset hearing loss (HL) has traditionally focused on environmental risk factors, including noise exposure, ototoxic drug exposure, and cardiovascular disease. The most common diagnosis in adult-onset HL is presbycusis. However, the age of onset of presbycusis varies, and patients often describe family history of HL as well as individual variation in progression and severity. In recent years, there has been accumulating evidence of gene-environment interactions underlying adult cases of HL. Susceptibility loci for age-related HL have been identified, and genes related to postlingual nonsyndromic HL continue to be discovered through individual reports and genome-wide association studies. This review will outline main concepts in genetics as related to HL, identify implicated genes, and discuss clinical implications. Laryngoscope, 131:401-409, 2021.

摘要

成人听力损失(HL)的文献和临床实践传统上侧重于环境风险因素,包括噪声暴露、耳毒性药物暴露和心血管疾病。成人 HL 中最常见的诊断是老年性聋。然而,老年性聋的发病年龄有所不同,患者常描述家族性 HL 病史以及进展和严重程度的个体差异。近年来,越来越多的证据表明基因-环境相互作用是成人 HL 的基础。已确定与年龄相关 HL 相关的易感基因座,并且通过个体报告和全基因组关联研究不断发现与后天性非综合征性 HL 相关的基因。这篇综述将概述与 HL 相关的遗传学的主要概念,确定相关基因,并讨论临床意义。《喉镜》,131:401-409, 2021.

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