{"title":"韩国人感音神经性听力损失的常见遗传病因。","authors":"Seung Hyun Jang, Kuhn Yoon, Heon Yung Gee","doi":"10.1186/s44342-024-00030-3","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":94288,"journal":{"name":"Genomics & informatics","volume":"22 1","pages":"27"},"PeriodicalIF":0.0000,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11605866/pdf/","citationCount":"0","resultStr":"{\"title\":\"Common genetic etiologies of sensorineural hearing loss in Koreans.\",\"authors\":\"Seung Hyun Jang, Kuhn Yoon, Heon Yung Gee\",\"doi\":\"10.1186/s44342-024-00030-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":94288,\"journal\":{\"name\":\"Genomics & informatics\",\"volume\":\"22 1\",\"pages\":\"27\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-11-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11605866/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genomics & informatics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s44342-024-00030-3\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genomics & informatics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s44342-024-00030-3","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Common genetic etiologies of sensorineural hearing loss in Koreans.
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.