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

Authors :
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
Source :
Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)
Publication Year :
2023
Publisher :
Nature Portfolio, 2023.

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.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
14
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.6c545f6161e84ab58fce429684406cdc
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-022-32936-3