Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss
| العنوان: | Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss |
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| المؤلفون: | Natalia Trpchevska, Maxim B. Freidin, Linda Broer, Berthe C. Oosterloo, Shuyang Yao, Yitian Zhou, Barbara Vona, Charles Bishop, Argyro Bizaki-Vallaskangas, Barbara Canlon, Fabio Castellana, Daniel I. Chasman, Stacey Cherny, Kaare Christensen, Maria Pina Concas, Adolfo Correa, Ran Elkon, Jonas Mengel-From, Yan Gao, Anne B.S. Giersch, Giorgia Girotto, Alexander Gudjonsson, Vilmundur Gudnason, Nancy L. Heard-Costa, Ronna Hertzano, Jacob v.B. Hjelmborg, Jens Hjerling-Leffler, Howard J. Hoffman, Jaakko Kaprio, Johannes Kettunen, Kristi Krebs, Anna K. Kähler, Francois Lallemend, Lenore J. Launer, I-Min Lee, Hampton Leonard, Chuan-Ming Li, Hubert Lowenheim, Patrik K.E. Magnusson, Joyce van Meurs, Lili Milani, Cynthia C. Morton, Antti Mäkitie, Mike A. Nalls, Giuseppe Giovanni Nardone, Marianne Nygaard, Teemu Palviainen, Sheila Pratt, Nicola Quaranta, Joel Rämö, Elmo Saarentaus, Rodolfo Sardone, Claudia L. Satizabal, John M. Schweinfurth, Sudha Seshadri, Eric Shiroma, Eldad Shulman, Eleanor Simonsick, Christopher Spankovich, Anke Tropitzsch, Volker M. Lauschke, Patrick F. Sullivan, Andre Goedegebure, Christopher R. Cederroth, Frances M.K. Williams, Andries Paul Nagtegaal, Andres Metspalu, Mari Nelis, Reedik Mägi, Tõnu Esko |
| المساهمون: | Tampere University, Clinical Medicine, Department of Otology and Oral Diseases, Institute for Molecular Medicine Finland, HUS Head and Neck Center, Clinicum, Korva-, nenä- ja kurkkutautien klinikka, Genetic Epidemiology, Genomics of Neurological and Neuropsychiatric Disorders, Complex Disease Genetics, Trpchevska, Natalia, Freidin, Maxim B, Broer, Linda, Oosterloo, Berthe C, Yao, Shuyang, Zhou, Yitian, Vona, Barbara, Bishop, Charle, Bizaki-Vallaskangas, Argyro, Canlon, Barbara, Castellana, Fabio, Chasman, Daniel I, Cherny, Stacey, Christensen, Kaare, Concas, Maria Pina, Correa, Adolfo, Elkon, Ran, Mengel-From, Jona, Gao, Yan, Giersch, Anne B S, Girotto, Giorgia, Gudjonsson, Alexander, Gudnason, Vilmundur, Heard-Costa, Nancy L, Hertzano, Ronna, Hjelmborg, Jacob V B, Hjerling-Leffler, Jen, Hoffman, Howard J, Kaprio, Jaakko, Kettunen, Johanne, Krebs, Kristi, Kähler, Anna K, Lallemend, Francoi, 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, Internal Medicine, Otorhinolaryngology and Head and Neck Surgery |
| المصدر: | Trpchevska, N, Freidin, M B, Broer, L, Oosterloo, B C, Yao, S, Zhou, Y, Vona, B, Bishop, C, Bizaki-vallaskangas, A, Canlon, B, Castellana, F, Chasman, D I, Cherny, S, Christensen, K, Concas, M P, Correa, A, Elkon, R, Mengel-from, J, Gao, Y, Giersch, A B S, Girotto, G, Gudjonsson, A, Gudnason, V, Heard-costa, N L, Hertzano, R, Hjelmborg, J V B, Hjerling-leffler, J, Hoffman, H J, Kaprio, J, Kettunen, J, Krebs, K, Kähler, A K, Lallemend, F, Launer, L J, Lee, I, Leonard, H, Li, C, Lowenheim, H, Magnusson, P K E, Van Meurs, J, Milani, L, Morton, C C, Mäkitie, A, Nalls, M A, Nardone, G G, Nygaard, M, Palviainen, T, Pratt, S, Quaranta, N, Rämö, J, Saarentaus, E, Sardone, R, Satizabal, C L, Schweinfurth, J M, Seshadri, S, Shiroma, E, Shulman, E, Simonsick, E, Spankovich, C, Tropitzsch, A, Lauschke, V M, Sullivan, P F, Goedegebure, A, Cederroth, C R, Williams, F M K, Nagtegaal, A P, Metspalu, A, Nelis, M, Mägi, R & Esko, T 2022, ' 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 . https://doi.org/10.1016/j.ajhg.2022.04.010Test American Journal of Human Genetics, 109(6), 1077-1091. Cell Press The American Journal of Human Genetics |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | basal cells, hair cells, cochlea, spindle cell, ARHL, GWAS, genetics, hearing loss, root cells, spindle cells, stria vascularis, Animals, Cochlea, Genome-Wide Association Study, Humans, Mice, Stria Vascularis, Deafness, Hearing Loss, basal cell, hair cell, Hair-cells, Heritability, otorhinolaryngologic diseases, Genetics, Pathogenicity, Gwas data, Deafne, Ld score regression, Ganglion neurons, Genetics (clinical), Animal, 1184 Genetics, developmental biology, physiology, hearing lo, Stria Vasculari, Inner, 3142 Public health care science, environmental and occupational health, root cell, Differentiation, Degeneration, 3111 Biomedicine, genetic, Noise, Human |
| الوصف: | 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. publishedVersion |
| وصف الملف: | fulltext; application/pdf |
| تدمد: | 1537-6605 0002-9297 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adc091fdf2ade424805f1d22909bade0Test https://pubmed.ncbi.nlm.nih.gov/35580588Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....adc091fdf2ade424805f1d22909bade0 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15376605 00029297 |
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