학술논문
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure
Document Type
article
Author
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)
Subject
Language
English
ISSN
2041-1723
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.