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Article

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.

Human genetics - 1 Apr 2022

Højland Allan Thomas, Tavernier Lisse J M, Schrauwen Isabelle, Sommen Manou, Topsakal Vedat, Schatteman Isabelle, Dhooge Ingeborg, Huber Alex, Zanetti Diego, Kunst Henricus P M, Hoischen Alexander, Petersen Michael B, Van Camp Guy, Fransen Erik

Abstract excerpt

In this study, we investigated the association of ACAN variants with otosclerosis, a frequent cause of hearing loss among young adults. We sequenced the coding, 5'-UTR and 3'-UTR regions of ACAN in 1497 unrelated otosclerosis cases and 1437 matched controls from six different subpopulations. The association between variants in ACAN and the disease risk was tested through single variant and gene-based association...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34410490
DOI: 10.1007/s00439-021-02334-8

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