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Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment

Nagtegaal A. P.
•
Broer L.
•
Zilhao N. R.
altro
Goedegebure A.
2019
  • journal article

Periodico
SCIENTIFIC REPORTS
Abstract
Previous research has shown that genes play a substantial role in determining a person's susceptibility to age-related hearing impairment. The existing studies on this subject have different results, which may be caused by difficulties in determining the phenotype or the limited number of participants involved. Here, we have gathered the largest sample to date (discovery n = 9,675; replication n = 10,963; validation n = 356,141), and examined phenotypes that represented low/mid and high frequency hearing loss on the pure tone audiogram. We identified 7 loci that were either replicated and/or validated, of which 5 loci are novel in hearing. Especially the ILDR1 gene is a high profile candidate, as it contains our top SNP, is a known hearing loss gene, has been linked to age-related hearing impairment before, and in addition is preferentially expressed within hair cells of the inner ear. By verifying all previously published SNPs, we can present a paper that combines all new and existing findings to date, giving a complete overview of the genetic architecture of age-related hearing impairment. This is of importance as age-related hearing impairment is highly prevalent in our ageing society and represents a large socio-economic burden.
DOI
10.1038/s41598-019-51630-x
WOS
WOS:000491859300008
Archivio
http://hdl.handle.net/11368/2952942
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074063270
https://www.nature.com/articles/s41598-019-51630-x
Diritti
open access
license:creative commons
license:creative commons
license:creative commons
license:creative commons
license uri:http://creativecommons.org/licenses/by/4.0/
license uri:http://creativecommons.org/licenses/by/4.0/
license uri:http://creativecommons.org/licenses/by/4.0/
license uri:http://creativecommons.org/licenses/by/4.0/
FVG url
https://arts.units.it/bitstream/11368/2952942/1/Nagtegaal et al - Genome-wide association meta- analysis identi es ve novel loci for age-related hearing impairment.pdf
Soggetti
  • ARHL

  • age-related hearing l...

  • GWAS

Scopus© citazioni
14
Data di acquisizione
Jun 14, 2022
Vedi dettagli
Web of Science© citazioni
25
Data di acquisizione
Mar 27, 2024
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