Article
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.
Nature communications - 18 Jan 2023
Rämö Joel T, Kiiskinen Tuomo, Seist Richard, Krebs Kristi, Kanai Masahiro, Karjalainen Juha, Kurki Mitja, Hämäläinen Eija, Häppölä Paavo, Havulinna Aki S, Hautakangas Heidi, Mägi Reedik, Palta Priit, Esko Tõnu, Metspalu Andres, Pirinen Matti, Karczewski Konrad J, Ripatti Samuli, Milani Lili, Stankovic Konstantina M, Mäkitie Antti, Daly Mark J, Palotie Aarno
Abstract excerpt
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...
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