Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

ABSTRACT:

Hypothesis

Genetic variation in BMP2 and BMP4 found in otosclerosis patients result in altered Smad signaling.

Background

Otosclerosis is a common form of adult-onset conductive hearing loss resulting from abnormal bone remodeling of the bony labyrinth that surrounds the inner ear. Both genetic and environmental factors are implicated in the disease, yet very little is known about its pathogenesis. The evidence for a genetic component has been established through family-based linkage and population-based association studies. Previously, members of the TGF-β superfamily of genes have been associated with otosclerosis.

Methods

Sequencing of BMP2 and BMP4 coding regions was performed to identify common and rare variation in German otosclerosis patients compared with cont

SUBMITTER: Ealy M 

PROVIDER: S-EPMC3945298 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature