title: COL1A1 association and otosclerosis: a meta-analysis.
abstract: Otosclerosis is a disease of abnormal bone remodeling in the human otic capsule that can lead to progressive hearing loss. Little of the underlying disease etiology has been elucidated thus far, although several studies have suggested that COL1A1 may play a role based on its importance in bone metabolism and other diseases like osteoporosis and osteogenesis imperfecta. Genetic association studies between COL1A1 and otosclerosis, however, have been contradictory. To resolve this issue, we studied a large Belgian-Dutch and a Swiss population for a genetic association between COL1A1 and otosclerosis and additionally performed a meta-analysis to investigate the overall genetic effect of COL1A1 on all otosclerosis populations studied to date. We found a significant association both in the Belgian-Dutch population and in the meta-analysis. In aggregate, our analysis supports evidence for an association between COL1A1 and otosclerosis although effect sizes of the variants reported in the initial studies are likely to be an overestimate of true effect sizes.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Schrauwen
authors.forename: Ayda
authors.initials: A
authors.lastname: Khalfallah
authors.forename: Megan
authors.initials: M
authors.lastname: Ealy
authors.forename: Erik
authors.initials: E
authors.lastname: Fransen
authors.forename: Charlotte
authors.initials: C
authors.lastname: Claes
authors.forename: Alex
authors.initials: A
authors.lastname: Huber
authors.forename: Laura Rodriguez
authors.initials: LR
authors.lastname: Murillo
authors.forename: Saber
authors.initials: S
authors.lastname: Masmoudi
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
mesh_terms: D001530:Belgium; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D056726:Genetic Association Studies; D006801:Humans; D009426:Netherlands; D010040:Otosclerosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain