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

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)...

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Autores principales: Liu, Wei, Johansson, Åsa, Rask-Andersen, Helge, Rask-Andersen, Mathias
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638543/
https://www.ncbi.nlm.nih.gov/pubmed/34847940
http://dx.doi.org/10.1186/s12916-021-02169-0
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author Liu, Wei
Johansson, Åsa
Rask-Andersen, Helge
Rask-Andersen, Mathias
author_facet Liu, Wei
Johansson, Åsa
Rask-Andersen, Helge
Rask-Andersen, Mathias
author_sort Liu, Wei
collection PubMed
description 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12916-021-02169-0.
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spelling pubmed-86385432021-12-03 A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens Liu, Wei Johansson, Åsa Rask-Andersen, Helge Rask-Andersen, Mathias BMC Med Research Article 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12916-021-02169-0. BioMed Central 2021-12-01 /pmc/articles/PMC8638543/ /pubmed/34847940 http://dx.doi.org/10.1186/s12916-021-02169-0 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research Article
Liu, Wei
Johansson, Åsa
Rask-Andersen, Helge
Rask-Andersen, Mathias
A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens
title A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens
title_full A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens
title_fullStr A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens
title_full_unstemmed A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens
title_short A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens
title_sort combined genome-wide association and molecular study of age-related hearing loss in h. sapiens
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638543/
https://www.ncbi.nlm.nih.gov/pubmed/34847940
http://dx.doi.org/10.1186/s12916-021-02169-0
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