Jang Seung Hyun, Yoon Kuhn, Gee Heon Yung
Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea.
Won-Sang Lee Institute for Hearing Loss, Seoul, 03722, Republic of Korea.
Genomics Inform. 2024 Nov 28;22(1):27. doi: 10.1186/s44342-024-00030-3.
Hearing loss is the most common sensory disorder. Genetic factors contribute substantially to this condition, although allelic heterogeneity and variable expressivity make a definite molecular diagnosis challenging. To provide a brief overview of the genomic landscape of sensorineural hearing loss in Koreans, this article reviews the genetic etiologies of nonsyndromic hearing loss in Koreans as well as the clinical characteristics, genotype-phenotype correlations, and pathogenesis of hearing loss arising from common variants observed in this population. Furthermore, potential genetic factors associated with age-related hearing loss, identified through genome-wide association studies, are briefly discussed. Understanding these genetic etiologies is crucial for advancing precise molecular diagnoses and developing targeted therapeutic interventions for hearing loss.
听力损失是最常见的感觉障碍。尽管等位基因异质性和可变表达性使明确的分子诊断具有挑战性，但遗传因素在很大程度上导致了这种情况。为了简要概述韩国人感音神经性听力损失的基因组情况，本文回顾了韩国人非综合征性听力损失的遗传病因，以及该人群中常见变异导致的听力损失的临床特征、基因型-表型相关性和发病机制。此外，还简要讨论了通过全基因组关联研究确定的与年龄相关性听力损失相关的潜在遗传因素。了解这些遗传病因对于推进听力损失的精确分子诊断和开发针对性的治疗干预措施至关重要。
