Association of bone morphogenetic proteins with otosclerosis.

ABSTRACT:

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. In a few families, it segregates as a monogenic disease with reduced penetrance, but in most patients, otosclerosis is more appropriately considered a complex disorder influenced by genetic and environmental factors.

Materials and methods

To identify major genetic factors in otosclerosis, we used a candidate gene approach to

SUBMITTER: Schrauwen I 

PROVIDER: S-EPMC2669162 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature