Nature Communications (Jan 2023)
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure
- Joel T. Rämö,
- Tuomo Kiiskinen,
- Richard Seist,
- Kristi Krebs,
- Masahiro Kanai,
- Juha Karjalainen,
- Mitja Kurki,
- Eija Hämäläinen,
- Paavo Häppölä,
- Aki S. Havulinna,
- Heidi Hautakangas,
- FinnGen,
- Reedik Mägi,
- Priit Palta,
- Tõnu Esko,
- Andres Metspalu,
- Matti Pirinen,
- Konrad J. Karczewski,
- Samuli Ripatti,
- Lili Milani,
- Konstantina M. Stankovic,
- Antti Mäkitie,
- Mark J. Daly,
- Aarno Palotie
Affiliations
- Joel T. Rämö
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Tuomo Kiiskinen
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Richard Seist
- Department of Otolaryngology – Head and Neck Surgery, Stanford University School of Medicine
- Kristi Krebs
- Estonian Genome Centre, Institute of Genomics, University of Tartu
- Masahiro Kanai
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Juha Karjalainen
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Mitja Kurki
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Eija Hämäläinen
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Paavo Häppölä
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Aki S. Havulinna
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Heidi Hautakangas
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- FinnGen
- Reedik Mägi
- Estonian Genome Centre, Institute of Genomics, University of Tartu
- Priit Palta
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Tõnu Esko
- Estonian Genome Centre, Institute of Genomics, University of Tartu
- Andres Metspalu
- Estonian Genome Centre, Institute of Genomics, University of Tartu
- Matti Pirinen
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Konrad J. Karczewski
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Samuli Ripatti
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Lili Milani
- Estonian Genome Centre, Institute of Genomics, University of Tartu
- Konstantina M. Stankovic
- Department of Otolaryngology – Head and Neck Surgery, Stanford University School of Medicine
- Antti Mäkitie
- Department of Otorhinolaryngology-Head and Neck Surgery, University of Helsinki and HUS Helsinki University Hospital
- Mark J. Daly
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- Aarno Palotie
- Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki
- DOI
- https://doi.org/10.1038/s41467-022-32936-3
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 14
Abstract
Otosclerosis is a common form of hearing loss, with an unclear genetic etiology. Here, the authors perform a genome-wide association study meta-analysis of otosclerosis identifying 27 genetic loci, pointing to genes involved in bone remodeling, skeletal disorders and transforming growth factor β signaling.
