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

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 = 3...

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Autores principales:	Wei Liu, Åsa Johansson, Helge Rask-Andersen, Mathias Rask-Andersen
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Age-related hearing loss Human gene expression Structured illumination microscopy GWAS Medicine R
Acceso en línea:	https://doaj.org/article/524d03e479484351bc94aec5a516b972
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spelling	oai:doaj.org-article:524d03e479484351bc94aec5a516b9722021-12-05T12:11:18ZA combined genome-wide association and molecular study of age-related hearing loss in H. sapiens10.1186/s12916-021-02169-01741-7015https://doaj.org/article/524d03e479484351bc94aec5a516b9722021-12-01T00:00:00Zhttps://doi.org/10.1186/s12916-021-02169-0https://doaj.org/toc/1741-7015Abstract 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.Wei LiuÅsa JohanssonHelge Rask-AndersenMathias Rask-AndersenBMCarticleAge-related hearing lossHuman gene expressionStructured illumination microscopyGWASMedicineRENBMC Medicine, Vol 19, Iss 1, Pp 1-23 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Age-related hearing loss Human gene expression Structured illumination microscopy GWAS Medicine R
spellingShingle	Age-related hearing loss Human gene expression Structured illumination microscopy GWAS Medicine R Wei Liu Åsa Johansson Helge Rask-Andersen Mathias Rask-Andersen A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens
description	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.
format	article
author	Wei Liu Åsa Johansson Helge Rask-Andersen Mathias Rask-Andersen
author_facet	Wei Liu Åsa Johansson Helge Rask-Andersen Mathias Rask-Andersen
author_sort	Wei Liu
title	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_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_sort	combined genome-wide association and molecular study of age-related hearing loss in h. sapiens
publisher	BMC
publishDate	2021
url	https://doaj.org/article/524d03e479484351bc94aec5a516b972
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A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens

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