How to Cite this Article: Schrauwen I, Khalfallah A, Ealy M, Fransen E, Claes C, Huber A, Murillo LR, Masmoudi S, Smith RJH, Van Camp G. 2012. COL1A1 association and otosclerosis: A meta-analysis. Am J Med Genet Part A. 158A:1066–1070.
COL1A1 association and otosclerosis: A meta-analysis†
Version of Record online: 9 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 5, pages 1066–1070, May 2012
How to Cite
Schrauwen, I., Khalfallah, A., Ealy, M., Fransen, E., Claes, C., Huber, A., Murillo, L. R., Masmoudi, S., Smith, R. J.H. and Van Camp, G. (2012), COL1A1 association and otosclerosis: A meta-analysis. Am. J. Med. Genet., 158A: 1066–1070. doi: 10.1002/ajmg.a.35276
- Issue online: 18 APR 2012
- Version of Record online: 9 APR 2012
- Manuscript Accepted: 23 DEC 2011
- Manuscript Received: 7 JUN 2011
- Flemish FWO. Grant Number: GN13807N
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. © 2012 Wiley Periodicals, Inc.