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Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

Author

Listed:
  • Joel T. Rämö

    (University of Helsinki)

  • Tuomo Kiiskinen

    (University of Helsinki)

  • Richard Seist

    (Stanford University School of Medicine)

  • Kristi Krebs

    (University of Tartu)

  • Masahiro Kanai

    (University of Helsinki
    Broad Institute of Harvard and MIT
    Broad Institute of Harvard and MIT
    Massachusetts General Hospital)

  • Juha Karjalainen

    (University of Helsinki
    Broad Institute of Harvard and MIT
    Broad Institute of Harvard and MIT
    Massachusetts General Hospital)

  • Mitja Kurki

    (University of Helsinki
    Broad Institute of Harvard and MIT
    Broad Institute of Harvard and MIT
    Massachusetts General Hospital)

  • Eija Hämäläinen

    (University of Helsinki)

  • Paavo Häppölä

    (University of Helsinki)

  • Aki S. Havulinna

    (University of Helsinki
    Finnish Institute for Health and Welfare)

  • Heidi Hautakangas

    (University of Helsinki)

  • Reedik Mägi

    (University of Tartu)

  • Priit Palta

    (University of Helsinki
    University of Tartu)

  • Tõnu Esko

    (University of Tartu)

  • Andres Metspalu

    (University of Tartu)

  • Matti Pirinen

    (University of Helsinki
    University of Helsinki
    University of Helsinki)

  • Konrad J. Karczewski

    (University of Helsinki
    Broad Institute of Harvard and MIT
    Broad Institute of Harvard and MIT
    Massachusetts General Hospital)

  • Samuli Ripatti

    (University of Helsinki
    Broad Institute of Harvard and MIT
    Massachusetts General Hospital
    University of Helsinki)

  • Lili Milani

    (University of Tartu)

  • Konstantina M. Stankovic

    (Stanford University School of Medicine)

  • Antti Mäkitie

    (University of Helsinki and HUS Helsinki University Hospital)

  • Mark J. Daly

    (University of Helsinki
    Broad Institute of Harvard and MIT
    Broad Institute of Harvard and MIT
    Massachusetts General Hospital)

  • Aarno Palotie

    (University of Helsinki
    Broad Institute of Harvard and MIT
    Broad Institute of Harvard and MIT
    Massachusetts General Hospital)

Abstract

Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of the population. It typically presents in adulthood and half of the patients have a positive family history. The pathophysiology of otosclerosis is poorly understood. A previous genome-wide association study (GWAS) identified a single association locus in an intronic region of RELN. Here, we report a meta-analysis of GWAS studies of otosclerosis in three population-based biobanks comprising 3504 cases and 861,198 controls. We identify 23 novel risk loci (p

Suggested Citation

  • Joel T. Rämö & Tuomo Kiiskinen & Richard Seist & Kristi Krebs & Masahiro Kanai & Juha Karjalainen & Mitja Kurki & Eija Hämäläinen & Paavo Häppölä & Aki S. Havulinna & Heidi Hautakangas & Reedik Mägi &, 2023. "Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    • Handle: RePEc:nat:natcom:v:14:y:2023:i:1:d:10.1038_s41467-022-32936-3
    DOI: 10.1038/s41467-022-32936-3
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    References listed on IDEAS

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