| Title: | A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens |
| Journal: | BMC Medicine |
| Published: | 1 Dec 2021 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/34847940/ |
| DOI: | https://doi.org/10.1186/s12916-021-02169-0 |
| URL: | https://bmcmedicine.biomedcentral.com/counter/pdf/10.1186/s12916-021-02169-0 |
| Citations: | 23 (16 in last 2 years) as of 8 Aug 2024 |
Publication 12655
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Abstract
BackgroundSensorineural hearing loss is one of the most common sensory deficiencies. However, the molecular contribution to age-related hearing loss is not fully elucidated.MethodsWe performed genome-wide association studies (GWAS) for hearing loss-related traits in the UK Biobank (N = 362,396) and selected a high confidence set of ten hearing-associated gene products for staining in human cochlear samples: EYA4, LMX1A, PTK2/FAK, UBE3B, MMP2, SYNJ2, GRM5, TRIOBP, LMO-7, and NOX4.ResultsAll proteins were found to be expressed in human cochlear structures. Our findings illustrate cochlear structures that mediate mechano-electric transduction of auditory stimuli, neuronal conductance, and neuronal plasticity to be involved in age-related hearing loss.ConclusionsOur results suggest common genetic variation to influence structural resilience to damage as well as cochlear recovery after trauma, which protect against accumulated damage to cochlear structures and the development of hearing loss over time.</p>
8 Keywords
- Cochlea
- Genome-Wide Association Study
- Hearing Loss
- Hearing Loss, Sensorineural
- Humans
- Phenotype
- Trans-Activators
- Ubiquitin-Protein Ligases
4 Authors
- Wei Liu
- Åsa Johansson
- Helge Rask-Andersen
- Mathias Rask-Andersen
1 Application
| Application ID | Title |
|---|---|
| 26808 | Investigating the genetics of congenital, age-related and environment-induced hearing loss. |
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