Detailed hearing tests uncover genes linked to hearing loss
Analysing hearing tests in 16,057 participants identified four candidate genes and yielded risk scores linked to deafness, whereas diagnostic codes found none.
JAMA Otolaryngology-- Head & Neck Surgery
In an observational genetic association study, researchers analysed whole-genome sequencing data from participants of European genetic ancestry at a single medical centre biobank. They compared two ways to spot genetic variants linked to sensorineural hearing loss, which involves the inner ear or auditory nerve. One analysis compared 10,164 people who had diagnostic codes for hearing loss with 51,305 control participants. The other tracked hearing ability as a continuous score from audiogram pure-tone averages in 16,057 participants. The pure-tone analysis identified three genetic regions mapped to four genes, whereas diagnostic codes found no significant sites. The estimated single-nucleotide variant heritability was 11.78% for pure-tone averages versus 2.90% for diagnostic codes. In an independent cohort from the All of Us Research Program, polygenic risk scores derived from pure-tone averages were significantly associated with self-reported deafness, whereas diagnostic-code scores were not.
Why it matters
Sensorineural hearing loss is widespread in older populations, but its underlying genetic drivers have remained difficult to map. These findings suggest that quantitative hearing measures better capture the genetic architecture of hearing sensitivity than diagnostic codes alone.
Caveats
The initial association analyses were observational and used data from a single medical centre biobank in people of European genetic ancestry. In addition, testing in the independent cohort relied on self-reported deafness rather than audiometric data.
The paper
Precision Phenotyping With Audiometric Data and Gene Discovery for Sensorineural Hearing Loss
Vanderbilt University
JAMA Otolaryngology-- Head & Neck Surgery · 8 Oct 2026
