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dc.contributor.authorTrpchevska, Natalia
dc.contributor.authorFreidin, Maxim B
dc.contributor.authorBroer, Linda
dc.contributor.authorOosterloo, Berthe C
dc.contributor.authorYao, Shuyang
dc.contributor.authorZhou, Yitian
dc.contributor.authorVona, Barbara
dc.contributor.authorBishop, Charles
dc.contributor.authorBizaki-Vallaskangas, Argyro
dc.contributor.authorCanlon, Barbara
dc.contributor.authorCastellana, Fabio
dc.contributor.authorChasman, Daniel I
dc.contributor.authorCherny, Stacey
dc.contributor.authorChristensen, Kaare
dc.contributor.authorConcas, Maria Pina
dc.contributor.authorCorrea, Adolfo
dc.contributor.authorElkon, Ran
dc.contributor.authorMengel-From, Jonas
dc.contributor.authorGao, Yan
dc.contributor.authorGiersch, Anne B S
dc.contributor.authorGirotto, Giorgia
dc.contributor.authorGudjonsson, Alexander
dc.contributor.authorGudnason, Vilmundur
dc.contributor.authorHeard-Costa, Nancy L
dc.contributor.authorHertzano, Ronna
dc.contributor.authorHjelmborg, Jacob V B
dc.contributor.authorHjerling-Leffler, Jens
dc.contributor.authorHoffman, Howard J
dc.contributor.authorKaprio, Jaakko
dc.contributor.authorKettunen, Johannes
dc.contributor.authorKrebs, Kristi
dc.contributor.authorKähler, Anna K
dc.contributor.authorLallemend, Francois
dc.contributor.authorLauner, Lenore J
dc.contributor.authorLee, I-Min
dc.contributor.authorLeonard, Hampton
dc.contributor.authorLi, Chuan-Ming
dc.contributor.authorLowenheim, Hubert
dc.contributor.authorMagnusson, Patrik K E
dc.contributor.authorvan Meurs, Joyce
dc.contributor.authorMilani, Lili
dc.contributor.authorMorton, Cynthia C
dc.contributor.authorMäkitie, Antti
dc.contributor.authorNalls, Mike A
dc.contributor.authorNardone, Giuseppe Giovanni
dc.contributor.authorNygaard, Marianne
dc.contributor.authorPalviainen, Teemu
dc.contributor.authorPratt, Sheila
dc.contributor.authorQuaranta, Nicola
dc.contributor.authorRämö, Joel
dc.contributor.authorSaarentaus, Elmo
dc.contributor.authorSardone, Rodolfo
dc.contributor.authorSatizabal Barrera, Claudia L
dc.contributor.authorSchweinfurth, John M
dc.contributor.authorSeshadri, Sudha
dc.contributor.authorShiroma, Eric
dc.contributor.authorShulman, Eldad
dc.contributor.authorSimonsick, Eleanor
dc.contributor.authorSpankovich, Christopher
dc.contributor.authorTropitzsch, Anke
dc.contributor.authorLauschke, Volker M
dc.contributor.authorSullivan, Patrick F
dc.contributor.authorGoedegebure, Andre
dc.contributor.authorCederroth, Christopher R
dc.contributor.authorWilliams, Frances M K
dc.contributor.authorNagtegaal, Andries Paul
dc.date.accessioned2022-06-02T14:19:42Z
dc.date.available2022-06-02T14:19:42Z
dc.date.issued2022-05-12
dc.identifier.urihttp://hdl.handle.net/10713/19053
dc.description.abstractHearing loss is one of the top contributors to years lived with disability and is a risk factor for dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. Here, we performed a genome-wide association meta-analysis of clinically diagnosed and self-reported hearing impairment on 723,266 individuals and identified 48 significant loci, 10 of which are novel. A large proportion of associations comprised missense variants, half of which lie within known familial hearing loss loci. We used single-cell RNA-sequencing data from mouse cochlea and brain and mapped common-variant genomic results to spindle, root, and basal cells from the stria vascularis, a structure in the cochlea necessary for normal hearing. Our findings indicate the importance of the stria vascularis in the mechanism of hearing impairment, providing future paths for developing targets for therapeutic intervention in hearing loss.en_US
dc.description.urihttps://doi.org/10.1016/j.ajhg.2022.04.010en_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relationThe GWAS summary statistics are deposited and available in Zenodo (https://zenodo.org/record/5769707#.Ybm6v33MKhx) and codes are available on GitHub (https://github.com/translational-audiology-lab/GWAS_ARHL).en_US
dc.relation.ispartofAmerican Journal of Human Geneticsen_US
dc.relation.urihttps://zenodo.org/record/5769707#.Ybm6v33MKhxen_US
dc.relation.urihttps://github.com/translational-audiology-lab/GWAS_ARHLen_US
dc.rightsCopyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.en_US
dc.titleGenome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.en_US
dc.typeArticleen_US
dc.identifier.doi10.1016/j.ajhg.2022.04.010
dc.identifier.pmid35580588
dc.source.journaltitleAmerican journal of human genetics
dc.source.countryUnited States


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