Functional analysis of candidate genes from genome-wide association studies of hearing.

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ID: 96397
2020
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Abstract
The underlying causes of age-related hearing loss (ARHL) are not well understood, but it is clear from heritability estimates that genetics plays a role in addition to environmental factors. Genome-wide association studies (GWAS) in human populations can point to candidate genes that may be involved in ARHL, but follow-up analysis is needed to assess the role of these genes in the disease process. Some genetic variants may contribute a small amount to a disease, while other variants may have a large effect size, but the genetic architecture of ARHL is not yet well-defined. In this study, we asked if a set of 17 candidate genes highlighted by early GWAS reports of ARHL have detectable effects on hearing by knocking down expression levels of each gene in the mouse and analysing auditory function. We found two of the genes have an impact on hearing. Mutation of Dclk1 led to late-onset progressive increase in ABR thresholds and the A430005L14Rik (C1orf174) mutants showed worse recovery from noise-induced damage than controls. We did not detect any abnormal responses in the remaining 15 mutant lines either in thresholds or from our battery of suprathreshold ABR tests, and we discuss the possible reasons for this.
Reference Key
ingham2020functionalhearing Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Ingham, Neil J;Rook, Victoria;Di Domenico, Francesca;James, Elysia;Lewis, Morag A;Girotto, Giorgia;Buniello, Annalisa;Steel, Karen P;
Journal hearing research
Year 2020
DOI
S0378-5955(19)30417-4
URL
Keywords
gene expression evoked potentials auditory brainstem response genome-wide association studies age-related hearing loss a430005l14rik dclk1 mammalian auditory system mouse mutants

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