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A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Otolaryngology and Head and Neck Surgery.
Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik.ORCID iD: 0000-0002-2915-4498
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Otolaryngology and Head and Neck Surgery.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0002-8008-4659
2021 (English)In: BMC Medicine, E-ISSN 1741-7015, Vol. 19, no 1, article id 302Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Sensorineural hearing loss is one of the most common sensory deficiencies. However, the molecular contribution to age-related hearing loss is not fully elucidated.

METHODS: We 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.

RESULTS: All 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.

CONCLUSIONS: Our 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.
Place, publisher, year, edition, pages
BioMed Central (BMC), 2021. Vol. 19, no 1, article id 302
Keywords [en]
Age-related hearing loss, GWAS, Human gene expression, Structured illumination microscopy
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-460263DOI: 10.1186/s12916-021-02169-0ISI: 000724060500001PubMedID: 34847940OAI: oai:DiVA.org:uu-460263DiVA, id: diva2:1618236
Funder
Tysta Skolan FoundationSwedish National Infrastructure for Computing (SNIC), sens2019576Available from: 2021-12-09 Created: 2021-12-09 Last updated: 2024-01-15Bibliographically approved

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Liu, WeiJohansson, ÅsaRask-Andersen, HelgeRask-Andersen, Mathias

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Otolaryngology and Head and Neck SurgeryScience for Life Laboratory, SciLifeLabMedicinsk genetik och genomik
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