A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24

Bogaert, Kris Van Den; Leenheer, Els De; Chen, W; Lee, Y; Nürnberg, Peter; Pennings, Ronald J.E.; Vanderstraeten, Kathleen; Thys, Melissa; Cremers, C.W.R.J.; Smith, Richard J.H.; Camp, Guy Van

doi:10.1136/jmg.2004.018671

Cited by 62 publications

(36 citation statements)

References 11 publications

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“…(7) Strong familial aggregation of individuals affected by otosclerosis typically shows an autosomal dominant pattern with reduced penetrance and has facilitated the identification of six loci for otosclerosis on chromosome 15q25-26 (OTSC1), chromosome 7q34-36 (OTSC2), chromosome 6p21.2-22.3 (OTSC3), chromosome 16q21-23.2 (OTSC4), chromosome 3q22-24 (OTSC5), and chromosome 6q13-16.1 (OTSC7). (8)(9)(10)(11)(12)(13) Two additional loci (OTSC6 and OTSC8) have been reserved with the Human Genome Organization nomenclature committee, although these localizations have not been published yet. None of the corresponding genes has been cloned yet.…”

Section: Introductionmentioning

confidence: 99%

Association of Bone Morphogenetic Proteins With Otosclerosis

Schrauwen

Thys

Vanderstraeten

et al. 2008

Journal of Bone and Mineral Research

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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 study two large independent case-control sets of Belgian-Dutch and French origin. Tag single nucleotide polymorphisms (SNPs) in 13 candidate susceptibility genes were studied in a stepwise strategy. Results: Two SNPs were identified that showed the same significant effect in both populations. The first SNP, rs3178250, is located in the 3Ј untranslated region of BMP2. Individuals homozygote for the C allele are protected against otosclerosis (combined populations: p ‫ס‬ 2.2 × 10

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Section: Introductionmentioning

confidence: 99%

Association of Bone Morphogenetic Proteins With Otosclerosis

Schrauwen

Thys

Vanderstraeten

et al. 2008

Journal of Bone and Mineral Research

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“…8 In addition, a sixth locus, OTSC6, has been reported to the Human Genome Organisation nomenclature committee but details describing this locus have not been published. None of the disease causing genes has been identified.…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2007

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“…Environmental factors like measles virus have been implicated in its pathogenesis (McKenna et al, 1990;Niedermeyer et al, 1994) and genetic factors are supported by the identification of seven discrete genetic loci in families segregating autosomal dominant otosclerosis (Bel Hadj Ali et al, 2008;Brownstein et al, 2006;Chen et al, 2002;Thys et al, 2007a;Tomek et al, 1998;Van Den Bogaert et al, 2004;Van Den Bogaert et al, 2001). However, none of the causative genes at these loci has been identified.…”

Section: Introductionmentioning

confidence: 99%

Gene expression analysis of human otosclerotic stapedial footplates

et al. 2008

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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.

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A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24

Cited by 62 publications

References 11 publications

Association of Bone Morphogenetic Proteins With Otosclerosis

Association of Bone Morphogenetic Proteins With Otosclerosis

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

Gene expression analysis of human otosclerotic stapedial footplates

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