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

Bibliographic Details
Title: 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)
Publisher Information: Nature Portfolio, 2023.
Publication Year: 2023
Collection: LCC:Science
Subject Terms: Science
More Details: 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.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 2041-1723
Relation: https://doaj.org/toc/2041-1723
DOI: 10.1038/s41467-022-32936-3
Access URL: https://doaj.org/article/6c545f6161e84ab58fce429684406cdc
Accession Number: edsdoj.6c545f6161e84ab58fce429684406cdc
Database: Directory of Open Access Journals
More Details
ISSN:20411723
DOI:10.1038/s41467-022-32936-3
Published in:Nature Communications
Language:English