title: Gene expression analysis of human otosclerotic stapedial footplates.
abstract: Otosclerosis is a complex disease that results in a common form of conductive hearing loss due to impaired mobility of the stapes. Stapedial motion becomes compromised secondary to invasion of otosclerotic foci into the stapedio-vestibular joint. Although environmental factors and genetic causes have been implicated in this process, the pathogenesis of otosclerosis remains poorly understood. To identify molecular contributors to otosclerosis we completed a microarray study of otosclerotic stapedial footplates. Stapes footplate samples from otosclerosis and control patients were used in the analysis. One-hundred-and-ten genes were found to be differentially expressed in otosclerosis samples. Ontological analysis of differentially expressed genes in otosclerosis provides evidence for the involvement of a number of pathways in the disease process that include interleukin signaling, inflammation and signal transduction, suggesting that aberrant regulation of these pathways leads to abnormal bone remodeling. Functional analyses of genes from this study will enhance our understanding of the pathogenesis of this disease.
authors.affiliation: Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, Pediatrics and Internal Medicine, Division of Nephrology, 200 Hawkins Drive - 21151 PFP, University of Iowa, Iowa City, IA, USA.
authors.forename: Megan
authors.initials: M
authors.lastname: Ealy
authors.forename: Wenjie
authors.initials: W
authors.lastname: Chen
authors.forename: Gi-Yung
authors.initials: GY
authors.lastname: Ryu
authors.forename: Jae-Geun
authors.initials: JG
authors.lastname: Yoon
authors.forename: D Bradley
authors.initials: DB
authors.lastname: Welling
authors.forename: Marlan
authors.initials: M
authors.lastname: Hansen
authors.forename: Anup
authors.initials: A
authors.lastname: Madan
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D016723:Bone Remodeling / Q000235:genetics*; D020869:Gene Expression Profiling / Q000379:methods; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D010026:Osteosclerosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D012313:RNA / Q000032:analysis; D013199:Stapes / Q000737:chemistry / Q000503:physiopathology*
chemical_list: D012313:RNA