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Genetics of age-related hearing loss

Genetics of age-related hearing loss
Genetics of age-related hearing loss
Age‐related hearing loss (ARHL) has recently been confirmed as a common complex trait, that is, it is heritable with many genetic variants each contributing a small amount of risk, as well as environmental determinants. Historically, attempts to identify the genetic variants underlying the ARHL have been of limited success, relying on the selection of candidate genes based on the limited knowledge of the pathophysiology of the condition, and linkage studies in samples comprising related individuals. More recently genome‐wide association studies have been performed, but these require very large samples having consistent and reliable phenotyping for hearing loss (HL), and early attempts suffered from lack of reliable replication of their findings. Replicated variants shown associated with ARHL include those lying in genes GRM7, ISG20, TRIOBP, ILDR1, and EYA4. The availability of large biobanks and the development of collaborative consortia have led to a breakthrough over the last couple of years, and many new genetic variants associated with ARHL are becoming available, through the analysis publicly available bioresources and electronic health records. These findings along with immunohistochemistry and mouse models of HL look set to help disentangle the genetic architecture of ARHL, and highlight the need for standardization of phenotyping methods to facilitate data sharing and collaboration across research networks.
age-related hearing loss, gene, hearing
0360-4012
1698-1704
Wells, Helena
6b4d6160-3744-4fa5-8259-ad067d0eb686
Newman, Tracey
322290cb-2e9c-445d-a047-00b1bea39a25
Williams, Frances
94b01ba1-ad86-498e-b9cc-f143e1421243
Wells, Helena
6b4d6160-3744-4fa5-8259-ad067d0eb686
Newman, Tracey
322290cb-2e9c-445d-a047-00b1bea39a25
Williams, Frances
94b01ba1-ad86-498e-b9cc-f143e1421243

Wells, Helena, Newman, Tracey and Williams, Frances (2020) Genetics of age-related hearing loss. Journal of Neuroscience Research, 98 (9), 1698-1704, [24549]. (doi:10.1002/jnr.24549).

Record type: Article

Abstract

Age‐related hearing loss (ARHL) has recently been confirmed as a common complex trait, that is, it is heritable with many genetic variants each contributing a small amount of risk, as well as environmental determinants. Historically, attempts to identify the genetic variants underlying the ARHL have been of limited success, relying on the selection of candidate genes based on the limited knowledge of the pathophysiology of the condition, and linkage studies in samples comprising related individuals. More recently genome‐wide association studies have been performed, but these require very large samples having consistent and reliable phenotyping for hearing loss (HL), and early attempts suffered from lack of reliable replication of their findings. Replicated variants shown associated with ARHL include those lying in genes GRM7, ISG20, TRIOBP, ILDR1, and EYA4. The availability of large biobanks and the development of collaborative consortia have led to a breakthrough over the last couple of years, and many new genetic variants associated with ARHL are becoming available, through the analysis publicly available bioresources and electronic health records. These findings along with immunohistochemistry and mouse models of HL look set to help disentangle the genetic architecture of ARHL, and highlight the need for standardization of phenotyping methods to facilitate data sharing and collaboration across research networks.

Text
jnr-2019-Oct-8335_reviewed(minus comments) - Accepted Manuscript
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More information

Accepted/In Press date: 15 October 2019
e-pub ahead of print date: 27 January 2020
Keywords: age-related hearing loss, gene, hearing

Identifiers

Local EPrints ID: 435242
URI: http://eprints.soton.ac.uk/id/eprint/435242
ISSN: 0360-4012
PURE UUID: 563e9a4e-dc03-400a-b5f6-5e8a2893a3f1
ORCID for Tracey Newman: ORCID iD orcid.org/0000-0002-3727-9258

Catalogue record

Date deposited: 28 Oct 2019 17:30
Last modified: 10 Jan 2022 05:47

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Contributors

Author: Helena Wells
Author: Tracey Newman ORCID iD
Author: Frances Williams

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