A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens

Bibliographic Details
Title: A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens
Authors: Wei Liu, Åsa Johansson, Helge Rask-Andersen, Mathias Rask-Andersen
Source: BMC Medicine, Vol 19, Iss 1, Pp 1-23 (2021)
Publisher Information: BMC, 2021.
Publication Year: 2021
Collection: LCC:Medicine
Subject Terms: Age-related hearing loss, Human gene expression, Structured illumination microscopy, GWAS, Medicine
More Details: Abstract 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.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1741-7015
Relation: https://doaj.org/toc/1741-7015
DOI: 10.1186/s12916-021-02169-0
Access URL: https://doaj.org/article/524d03e479484351bc94aec5a516b972
Accession Number: edsdoj.524d03e479484351bc94aec5a516b972
Database: Directory of Open Access Journals
More Details
ISSN:17417015
DOI:10.1186/s12916-021-02169-0
Published in:BMC Medicine
Language:English