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DOI 10.1016/j.ajhg.2022.04.010

Медицинская библиотека · American journal of human genetics · 2022

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.

Trpchevska Natalia, Freidin Maxim B, Broer Linda, Oosterloo Berthe C, Yao Shuyang, Zhou Yitian, Vona Barbara, Bishop Charles, Bizaki-Vallaskangas Argyro, Canlon Barbara, Castellana Fabio, Chasman Daniel I, Cherny Stacey, Christensen Kaare, Concas Maria Pina, Correa Adolfo, Elkon Ran, Estonian Biobank Research Team, Mengel-From Jonas, Gao Yan, Giersch Anne B S, Girotto Giorgia, Gudjonsson Alexander, Gudnason Vilmundur, Heard-Costa Nancy L, Hertzano Ronna, Hjelmborg Jacob V B, Hjerling-Leffler Jens, Hoffman Howard J, Kaprio Jaakko, Kettunen Johannes, Krebs Kristi, Kähler Anna K, Lallemend Francois, Launer Lenore J, Lee I-Min, Leonard Hampton, Li Chuan-Ming, Lowenheim Hubert, Magnusson Patrik K E, van Meurs Joyce, Milani Lili, Morton Cynthia C, Mäkitie Antti, Nalls Mike A, Nardone Giuseppe Giovanni, Nygaard Marianne, Palviainen Teemu, Pratt Sheila, Quaranta Nicola, Rämö Joel, Saarentaus Elmo, Sardone Rodolfo, Satizabal Claudia L, Schweinfurth John M, Seshadri Sudha, Shiroma Eric, Shulman Eldad, Simonsick Eleanor, Spankovich Christopher, Tropitzsch Anke, Lauschke Volker M, Sullivan Patrick F, Goedegebure Andre, Cederroth Christopher R, Williams Frances M K, Nagtegaal Andries Paul

СтатьяМетаанализПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПоддержка правительства СШАПеревод в очереди

Аннотация

Hearing 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.

Для цитирования: Trpchevska Natalia, Freidin Maxim B, Broer Linda, Oosterloo Berthe C, Yao Shuyang, Zhou Yitian, Vona Barbara, Bishop Charles, Bizaki-Vallaskangas Argyro, Canlon Barbara, Castellana Fabio, Chasman Daniel I, Cherny Stacey, Christensen Kaare, Concas Maria Pina, Correa Adolfo, Elkon Ran, Estonian Biobank Research Team, Mengel-From Jonas, Gao Yan, Giersch Anne B S, Girotto Giorgia, Gudjonsson Alexander, Gudnason Vilmundur, Heard-Costa Nancy L, Hertzano Ronna, Hjelmborg Jacob V B, Hjerling-Leffler Jens, Hoffman Howard J, Kaprio Jaakko, Kettunen Johannes, Krebs Kristi, Kähler Anna K, Lallemend Francois, Launer Lenore J, Lee I-Min, Leonard Hampton, Li Chuan-Ming, Lowenheim Hubert, Magnusson Patrik K E, van Meurs Joyce, Milani Lili, Morton Cynthia C, Mäkitie Antti, Nalls Mike A, Nardone Giuseppe Giovanni, Nygaard Marianne, Palviainen Teemu, Pratt Sheila, Quaranta Nicola, Rämö Joel, Saarentaus Elmo, Sardone Rodolfo, Satizabal Claudia L, Schweinfurth John M, Seshadri Sudha, Shiroma Eric, Shulman Eldad, Simonsick Eleanor, Spankovich Christopher, Tropitzsch Anke, Lauschke Volker M, Sullivan Patrick F, Goedegebure Andre, Cederroth Christopher R, Williams Frances M K, Nagtegaal Andries Paul. Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.. American journal of human genetics. 2022. DOI: 10.1016/j.ajhg.2022.04.010.

Предметные рубрики MeSH

AnimalsCochleaDeafnessGenome-Wide Association StudyHearing LossHumansMiceStria Vascularis
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