Leveraging underrepresented population data improves interpretation of genetic variants associated with hearing loss.

ABSTRACT: Hearing loss is genetically heterogeneous, with over 121 implicated genes. Minor allele frequency (MAF) data from population databases greatly aid variant interpretation; however, these databases are predominantly based on individuals of European ancestry and lack sufficient East Asian representation, limiting accurate interpretation in under-represented populations. We analyzed rare variants associated with non-syndromic hearing loss classified as pathogenic, likely pathogenic, or of uncertain significance in the Deafness Variation Database (DVD). Population allele frequencies from 9,579 Koreans, 54,000 Japanese, and 651 patients with sensorineural hearing loss were evaluated. Of the 6,381 pathogenic or likely pathogenic variants cataloged in the DVD, 216 (3.38%) were detected in Korean p

SUBMITTER: Joo SY 

PROVIDER: S-EPMC12480851 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature