Association of bone morphogenetic proteins with otosclerosis.

Unlabelled: We studied the role of polymorphisms in 13 candidate genes on the risk of otosclerosis in two large independent case-control sets. We found significant association in both populations with BMP2 and BMP4, implicating these two genes in the pathogenesis of this disease.

Introduction: Otosclerosis is a progressive disorder of the human temporal bone that leads to conductive hearing loss and in some cases sensorineural or mixed hearing loss.

The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations.

Otosclerosis is a progressive hearing loss characterized by an abnormal bone homeostasis of the otic capsule that leads to stapes fixation. Although its etiology remains unknown, otosclerosis can be considered a complex disease. Transforming growth factor-beta 1 (TGF-beta1) was chosen for a case-control association study, because of several non-genetic indications of involvement in otosclerosis.

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

Otosclerosis is a common form of hearing impairment among white adults with a prevalence of 0.3-0.4%.