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, 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 and Aarno Palotie ()
Additional contact information
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
Juha Karjalainen: University of Helsinki
Mitja Kurki: University of Helsinki
Eija Hämäläinen: University of Helsinki
Paavo Häppölä: University of Helsinki
Aki S. Havulinna: University of Helsinki
Heidi Hautakangas: University of Helsinki
Reedik Mägi: University of Tartu
Priit Palta: University of Helsinki
Tõnu Esko: University of Tartu
Andres Metspalu: University of Tartu
Matti Pirinen: University of Helsinki
Konrad J. Karczewski: University of Helsinki
Samuli Ripatti: 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
Aarno Palotie: University of Helsinki

Nature Communications, 2023, vol. 14, issue 1, 1-14

Abstract: 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

Date: 2023
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DOI: 10.1038/s41467-022-32936-3

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