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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; 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.
Afiliación
  • Trpchevska N; Department of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden.
  • Freidin MB; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.
  • Broer L; Department of Internal Medicine, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Oosterloo BC; Department of Otorhinolaryngology, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Yao S; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden.
  • Zhou Y; Department of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden.
  • Vona B; Institute of Human Genetics, University Medical Center Göttingen, 37073 Göttingen, Germany; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075 Göttingen, Germany; Department of Otolaryngology-Head & Neck Surgery, University of Tübingen Medical Center,
  • Bishop C; Department of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, Jackson, MS 39216, USA.
  • Bizaki-Vallaskangas A; Department of Otolaryngology, University of Tampere, 33100 Tampere, Finland; Pirkanmaan Sairaanhoitopiiri, 33520 Tampere, Finland.
  • Canlon B; Department of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden.
  • Castellana F; Unit of Data Sciences and Technology Innovation for Population Health, National Institute of Gastroenterology "Saverio de Bellis", Research Hospital, Castellana Grotte, 70124 Bari, Italy.
  • Chasman DI; Division of Preventative Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Cherny S; Department of Anatomy and Anthropology and Department of Epidemiology and Preventive Medicine, Sackler Faculty of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
  • Christensen K; The Danish Twin Registry, Department of Public Health, University of Southern Denmark, 5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark; Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, 5000 Odense C, Denmark
  • Concas MP; Institute for Maternal and Child Health - IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
  • Correa A; Jackson Heart Study, The University of Mississippi Medical Center, Jackson, MS 39216, USA.
  • Elkon R; Department of Human Molecular Genetics & Biochemistry, Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
  • Mengel-From J; The Danish Twin Registry, Department of Public Health, University of Southern Denmark, 5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark.
  • Gao Y; Jackson Heart Study, The University of Mississippi Medical Center, Jackson, MS 39216, USA; Department of Population Health Science, University of Mississippi Medical Center, Jackson, MS 39216, USA.
  • Giersch ABS; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Girotto G; Institute for Maternal and Child Health - IRCCS, Burlo Garofolo, 34127 Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34139 Trieste, Italy.
  • Gudjonsson A; Icelandic Heart Association, 201 Kopavogur, Iceland.
  • Gudnason V; Icelandic Heart Association, 201 Kopavogur, Iceland; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
  • Heard-Costa NL; Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA; Framingham Heart Study, Framingham, MA 01702, USA.
  • Hertzano R; Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland Baltimore, Baltimore, MD 21201, USA; Department of Anatomy and Neurobiology, University of Maryland Baltimore, Baltimore, MD 21201, USA; Institute for Genome Sciences, University of Maryland Baltimore, Baltimore, MD 2120
  • Hjelmborg JVB; The Danish Twin Registry, Department of Public Health, University of Southern Denmark, 5000 Odense C, Denmark.
  • Hjerling-Leffler J; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.
  • Hoffman HJ; Division of Scientific Programs, Epidemiology and Statistics Program, National Institute on Deafness and Other Communications Disorders (NIDCD), NIH, Bethesda, MD 20892, USA.
  • Kaprio J; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland.
  • Kettunen J; Computational Medicine, Center for Life Course Health Research, Faculty of Medicine, University of Oulu, 90220 Oulu, Finland; Biocenter Oulu, University of Oulu, 90220 Oulu, Finland; Finnish Institute for Health and Welfare, 00271 Helsinki, Finland.
  • Krebs K; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
  • Kähler AK; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden.
  • Lallemend F; Department of Neuroscience, Karolinska Institutet, 17177 Stockholm, Sweden.
  • Launer LJ; Laboratory of Epidemiology and Population Sciences, Intramural Research Program National Institute on Aging, Bethesda, MD 20892, USA.
  • Lee IM; Division of Preventative Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Leonard H; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA; Data Tecnica International, Glen Echo, MD 20812, USA.
  • Li CM; Division of Scientific Programs, Epidemiology and Statistics Program, National Institute on Deafness and Other Communications Disorders (NIDCD), NIH, Bethesda, MD 20892, USA.
  • Lowenheim H; Department of Otolaryngology-Head & Neck Surgery, University of Tübingen Medical Center, 72076 Tübingen, Germany.
  • Magnusson PKE; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden.
  • van Meurs J; Department of Internal Medicine, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands.
  • Milani L; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
  • Morton CC; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Obstetrics and Gynecology and of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA; Manchester Centre for Audiology and Deafness, University of Manchester, Manchester M13 9PL, UK.
  • Mäkitie A; Department of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and Helsinki University Hospital, 00029 Helsinki, Finland.
  • Nalls MA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA; Center for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD 20892, USA; Data Tecnica International, Glen Echo, MD 20812, USA.
  • Nardone GG; Institute for Maternal and Child Health - IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
  • Nygaard M; The Danish Twin Registry, Department of Public Health, University of Southern Denmark, 5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark.
  • Palviainen T; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland.
  • Pratt S; Department of Communication Science & Disorders, University of Pittsburgh, Pittsburgh, PA 15260, USA.
  • Quaranta N; Otolaryngology Unit, Department of Basic Medical Science, Neuroscience and Sense Organs, University of Bari Aldo Moro, 70121 Bari, Italy.
  • Rämö J; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland.
Am J Hum Genet ; 109(6): 1077-1091, 2022 06 02.
Article en En | MEDLINE | ID: mdl-35580588
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.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sordera / Pérdida Auditiva Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Suecia
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sordera / Pérdida Auditiva Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Suecia