SynthesisAmerican journal of human genetics2022
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.
Open access · hybridAbstract readMeta-Analysis
In one paragraph
Synthesis in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 4 pooled it
5.6field-weighted citation impact, top 3% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
50 citing papers in PubMed, 4 syntheses or guidelines pooled it, 70 citations in OpenAlex.
- Discovering Age- and Sex-Specific Genetic Risk Factors in Sensorineural Hearing Loss: Genome-Wide Evidence from Large-Scale Biobanks.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- A Systematic Review on the Role of the Stria Vascularis in Menière's Disease Pathogenesis.Journal of the Association for Research in Otolaryngology : JARO · 2025Pooled it
- A Systematic Review on the Genetic Contribution to Tinnitus.Journal of the Association for Research in Otolaryngology : JARO · 2024Pooled it
- Genetic architecture distinguishes tinnitus from hearing loss.Nature communications · 2024Pooled it
- Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.American journal of human genetics · 2026Article
- A single-nucleus transcriptomic atlas of human inner ear development.Nature neuroscience · 2026Article
- Genetically predicted body mass index and self-reported hearing difficulty: a two-sample Mendelian randomization study with external replication.Journal of otology · 2026Article
- Genomic and Epigenomic Advances in Hearing Loss: Molecular Mechanisms, Diagnostics, and Emerging Therapies.Journal of personalized medicine · 2026Review
- Polygenic Contribution to Sensorineural Hearing Loss Implicates Novel Risk Loci and Convergence with Congenital Hearing Loss Genes.Journal of the Association for Research in Otolaryngology : JARO · 2026Article
- Presbycusis Across the Lifespan: Genetic, Molecular, and Multi-Omics Contributions.Audiology research · 2026Review
- Blocking acid-sensing ion channel 1a attenuates bilirubin-induced ototoxicity in cochlear organotypic culture.Fundamental research · 2026Article
- [Elucidating the gene-environment interplay in risk factors for Age-related hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2026Article
- Multi-ancestry GWAS of age-related hearing loss identifies 140 loci and key cellular mechanisms.Nature communications · 2026Article
- Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults from the CLSA.bioRxiv : the preprint server for biology · 2026Article
- Genetic and Environmental Factors Shaping Hearing Loss: Xenobiotics, Mechanisms and Translational Perspectives.Journal of xenobiotics · 2026Review
- Cross-species validation of a human age-related hearing loss candidate KLHDC7B as essential for mammalian hearing.Communications biology · 2025Article
- Integrating GWAS meta-analysis with human brain cell mapping implicates the amygdala and the midbrain in the pathogenesis of tinnitus.medRxiv : the preprint server for health sciences · 2025Article
- A Phenome-Wide Comorbidity Atlas of Age-Related Hearing Loss, Speech-in-Noise Deficits, and Tinnitus: Distinguishing Causal Signals from Correlation.Journal of the Association for Research in Otolaryngology : JARO · 2025Article
- The tectorial membrane has a critical role in metabolic age-related hearing loss.EBioMedicine · 2025Article
- Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes.Communications biology · 2025Article
Corrections and comments
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Authors and funding
67 authors at 20 institutions in 11 countries.
Natalia TrpchevskaDepartment of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden.
Maxim B FreidinDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Linda BroerDepartment of Internal Medicine, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands.
Berthe C OosterlooDepartment of Otorhinolaryngology, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands.
Shuyang YaoDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden.
Yitian ZhouDepartment of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden.
Barbara VonaInstitute 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, 72076 Tübingen, Germany.
Charles BishopDepartment of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, Jackson, MS 39216, USA.
Argyro Bizaki-VallaskangasDepartment of Otolaryngology, University of Tampere, 33100 Tampere, Finland; Pirkanmaan Sairaanhoitopiiri, 33520 Tampere, Finland.
Barbara CanlonDepartment of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden.
Fabio CastellanaUnit of Data Sciences and Technology Innovation for Population Health, National Institute of Gastroenterology "Saverio de Bellis", Research Hospital, Castellana Grotte, 70124 Bari, Italy.
Daniel I ChasmanDivision 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.
Stacey ChernyDepartment of Anatomy and Anthropology and Department of Epidemiology and Preventive Medicine, Sackler Faculty of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
Kaare ChristensenThe 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.
Maria Pina ConcasInstitute for Maternal and Child Health - IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Adolfo CorreaJackson Heart Study, The University of Mississippi Medical Center, Jackson, MS 39216, USA.
Ran ElkonDepartment of Human Molecular Genetics & Biochemistry, Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
Estonian Biobank Research TeamEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Jonas Mengel-FromThe 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.
Yan GaoJackson 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.
Anne B S GierschDepartment of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Giorgia GirottoInstitute for Maternal and Child Health - IRCCS, Burlo Garofolo, 34127 Trieste, Italy; Department of Medicine, Surgery and Health Sciences, University of Trieste, 34139 Trieste, Italy.
Alexander GudjonssonIcelandic Heart Association, 201 Kopavogur, Iceland.
Vilmundur GudnasonIcelandic Heart Association, 201 Kopavogur, Iceland; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Nancy L Heard-CostaDepartment of Neurology, Boston University School of Medicine, Boston, MA 02118, USA; Framingham Heart Study, Framingham, MA 01702, USA.
Ronna HertzanoDepartment 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 21201, USA.
Jacob V B HjelmborgThe Danish Twin Registry, Department of Public Health, University of Southern Denmark, 5000 Odense C, Denmark.
Jens Hjerling-LefflerDepartment of Medical Biochemistry and Biophysics, Karolinska Institutet, 17177 Stockholm, Sweden.
Howard J HoffmanDivision of Scientific Programs, Epidemiology and Statistics Program, National Institute on Deafness and Other Communications Disorders (NIDCD), NIH, Bethesda, MD 20892, USA.
Jaakko KaprioInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland.
Johannes KettunenComputational 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.
Kristi KrebsEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Anna K KählerDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden.
Francois LallemendDepartment of Neuroscience, Karolinska Institutet, 17177 Stockholm, Sweden.
Lenore J LaunerLaboratory of Epidemiology and Population Sciences, Intramural Research Program National Institute on Aging, Bethesda, MD 20892, USA.
I-Min LeeDivision of Preventative Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Hampton LeonardLaboratory 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.
Chuan-Ming LiDivision of Scientific Programs, Epidemiology and Statistics Program, National Institute on Deafness and Other Communications Disorders (NIDCD), NIH, Bethesda, MD 20892, USA.
Hubert LowenheimDepartment of Otolaryngology-Head & Neck Surgery, University of Tübingen Medical Center, 72076 Tübingen, Germany.
Patrik K E MagnussonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden.
Joyce van MeursDepartment of Internal Medicine, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands.
Lili MilaniEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Cynthia C MortonBroad 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.
Antti MäkitieDepartment of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and Helsinki University Hospital, 00029 Helsinki, Finland.
Mike A NallsLaboratory 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.
Giuseppe Giovanni NardoneInstitute for Maternal and Child Health - IRCCS, Burlo Garofolo, 34127 Trieste, Italy.
Marianne NygaardThe 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.
Teemu PalviainenInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland.
Sheila PrattDepartment of Communication Science & Disorders, University of Pittsburgh, Pittsburgh, PA 15260, USA.
Nicola QuarantaOtolaryngology Unit, Department of Basic Medical Science, Neuroscience and Sense Organs, University of Bari Aldo Moro, 70121 Bari, Italy.
Joel RämöInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland.
Elmo SaarentausInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, 00014 Helsinki, Finland.
Rodolfo SardoneUnit of Data Sciences and Technology Innovation for Population Health, National Institute of Gastroenterology "Saverio de Bellis", Research Hospital, Castellana Grotte, 70124 Bari, Italy.
Claudia L SatizabalDepartment of Neurology, Boston University School of Medicine, Boston, MA 02118, USA; Framingham Heart Study, Framingham, MA 01702, USA; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases and Department of Population Health Sciences, University of Texas Health Sciences Center, San Antonio, TX 78229, USA.
John M SchweinfurthDepartment of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, Jackson, MS 39216, USA.
Sudha SeshadriDepartment of Neurology, Boston University School of Medicine, Boston, MA 02118, USA; Framingham Heart Study, Framingham, MA 01702, USA; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases and Department of Population Health Sciences, University of Texas Health Sciences Center, San Antonio, TX 78229, USA.
Eric ShiromaLaboratory of Epidemiology and Population Sciences, National Institute on Aging, Baltimore, MD 21224, USA.
Eldad ShulmanDepartment of Human Molecular Genetics & Biochemistry, Sackler School of Medicine, Tel Aviv University, 69978 Tel Aviv, Israel.
Eleanor SimonsickLongitudinal Studies Section, Translational Gerontology Branch, National Institute on Aging, Baltimore, MD 21224, USA.
Christopher SpankovichDepartment of Otolaryngology and Communicative Sciences, The University of Mississippi Medical Center, Jackson, MS 39216, USA.
Anke TropitzschDepartment of Otolaryngology-Head & Neck Surgery, University of Tübingen Medical Center, 72076 Tübingen, Germany.
Volker M LauschkeDepartment of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden.
Patrick F SullivanDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, 17177 Stockholm, Sweden; Department of Genetics, University of North Carolina, Chapel Hill, NC 27516, USA.
Andre GoedegebureDepartment of Otorhinolaryngology, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands.
Christopher R CederrothDepartment of Physiology and Pharmacology, Karolinska Institutet, 17177 Stockholm, Sweden; National Institute for Health Research (NIHR) Nottingham Biomedical Research Centre, Nottingham University Hospitals NHS Trust, Ropewalk House, NG1 5DU Nottingham, UK; Hearing Sciences, Division of Clinical Neuroscience, School of Medicine, University of Nottingham, NG7 2UH Nottingham, UK. Electronic address: christopher.cederroth@ki.se.
Frances M K WilliamsDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Andries Paul NagtegaalDepartment of Otorhinolaryngology, Erasmus Medical Center, 3015 CE Rotterdam, the Netherlands.
Karolinska Institutet · SEErasmus MC · NLUniversity of Helsinki · FIUniversity of Southern Denmark · DKNational Institute on Aging · USNational Institutes of Health · USTel Aviv University · ILBoston University · USBrigham and Women's Hospital · USBroad Institute · USIRCCS Materno Infantile Burlo Garofolo · ITKing's College London · GBJackson Memorial Hospital · USUniversity of Maryland, Baltimore · USUniversity of Mississippi Medical Center · USFramingham Heart Study · USGastroenterology Hospital "Saverio de Bellis" · ITNational Institute on Deafness and Other Communication Disorders · USNottingham University Hospitals NHS Trust · GBTampere University · FI
Funding
FRAMINGHAM HEART STUDY - YEAR 5 EXAM75N92019D00031 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI RAMACHANDRAN, VASAN · 2019 to 2024
$29.8MSouth Texas Alzheimer's Disease Research CenterP30AG066546 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Neela K Patel · 2021 to 2026
$24.0MPRECURSORS OF STROKE INCIDENCE AND PROGNOSISR01NS017950 · NINDS · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI Hugo Javier Aparicio, Jose Rafael Romero · 1985 to 2026
$22.9MTemporal Trends, Novel Imaging and Molecular Characterization of Preclinical and Clinical Alzheimer's Disease in the Framingham CohortsR01AG054076 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI DECARLI, CHARLES, SESHADRI, SUDHA · 2016 to 2020
$12.3MTherapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approachesU01AG058589 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BOERWINKLE, ERIC A., DE JAGER, PHILIP L · 2018 to 2022
$11.1MMultidimensional Assessment of Brain Health as A Marker of Dementia Risk and ResilienceR01AG066524 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI KASHANI, AMIR H, RAMACHANDRAN, VASAN S · 2020 to 2024
$9.7MCognitively Healthy Nonagenarians in the Cross Cohort Collaboration (CCC)RF1AG059421 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI SESHADRI, SUDHA · 2018 to 2018
$6.1MPlasma Proteome and Risk of Alzheimer Dementia and Related Endophenotypes in the Framingham StudyRF1AG063507 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI GERSZTEN, ROBERT E, RAMACHANDRAN, VASAN S · 2019 to 2019
$4.2MThe Aging Genome Association Study "AGE-GAIN"ZIAAG000965 · NIA · NATIONAL INSTITUTE ON AGING · PI FERRUCCI, LUIGI · 2009 to 2025
$4.0MHealth, Aging and Body Composition StudyZIAAG007390 · NIA · NATIONAL INSTITUTE ON AGING · PI LAUNER, LENORE J · 2009 to 2024
$4.0MCell Type Specific Transcriptional Cascades in Inner Ear DevelopmentR01DC013817 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI HERTZANO, RONNA · 2015 to 2022
$3.6MPreclinical AD: Correlates of Amyloid, Tau PET and fcMRI in Framingham Gen 3 Young AdultsR01AG049607 · NIA · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI SESHADRI, SUDHA · 2015 to 2019
$3.1MNHLBI NIH HHS 75N92019D00031NHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS N01 HC025195NIA NIH HHS P30 AG066546NIA NIH HHS R01 AG049607NIA NIH HHS R01 AG054076NIA NIH HHS R01 AG059727NIA NIH HHS R01 AG066524NIA NIH HHS RF1 AG059421NIA NIH HHS RF1 AG063507NIA NIH HHS U01 AG052409NIA NIH HHS U01 AG058589NIDCD NIH HHS R01 DC013817NIDCD NIH HHS R01 DC019370NIDCD NIH HHS U01 DC013817NINDS NIH HHS R01 NS017950NINDS NIH HHS UF1 NS125513NINDS NIH HHS UH2 NS100605Wellcome Trust
Abstract
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.
Indexed as
DeafnessHearing LossAnimalsCochleaGenome-Wide Association StudyHumansMiceStria VascularisARHLbasal cellscochleageneticsGWAShair cellshearing lossroot cellsspindle cellsstria vascularis
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