Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes.

ABSTRACT: Age-related hearing loss affects one-third of the population over 65 years. However, the diverse pathologies underlying these heterogeneous phenotypes complicate genetic studies. Here we show that by applying computational phenotyping approaches based on audiometrically measured hearing loss, we can overcome challenges associated with accurate phenotyping for older adults with hearing loss. Using this phenotyping strategy, we uncover differences in the associations observed between genetic variants and sensory and metabolic hearing loss. Sex-stratified analyses of these sexually dimorphic hearing loss phenotypes reveal a locus of relevance to sensory hearing loss in males, but not females. Enrichment analyses implicate genes involved in frontotemporal dementia in metabolic hearing loss, wh

SUBMITTER: Ahmed S 

PROVIDER: S-EPMC12579245 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature