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Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2

(2010) GENES AND IMMUNITY. 11(3). p.246-253
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Abstract
Otosclerosis is a common form of hearing loss, characterized by disordered bone remodeling in the otic capsule. Within the otosclerotic foci, several immunocompetent cells and immune-modulating factors can be found. Different etiological theories involving the immune system have been suggested. However, a genetic component is clearly present. In large otosclerosis families, seven autosomal-dominant loci have been found, but none of the disease-causing genes has been identified. This study focused on the exploration of the second otosclerosis locus on chromosome 7q34-36 (OTSC2), holding the T-cell receptor beta locus (TRB locus). A significantly lower T-cell receptor-beta (TCR-beta) mRNA expression and percentage of blood circulating TCR-alpha beta(+) T cells was detected in OTSC2 patients compared with controls and patients with the complex form of the disease. Further analysis illustrated more significant disturbances in specific T-cell subsets, including an increased CD28(null) cell population, suggesting a disturbed T-cell development and ageing in OTSC2 patients. These disturbances could be associated with otosclerotic bone remodeling, given the known effects of immunocompetent cells on bone physiology. These data implicate the TRB locus as the causative gene in the OTSC2 region and represent an important finding in the elucidation of the disease pathology. Genes and Immunity (2010) 11, 246-253; doi:10.1038/gene.2010.3; published online 25 February 2010
Keywords
LOCUS, HIDDEN-MARKOV MODEL, otosclerosis, TCR-beta, TCRB, CD28(null) cells, OTSC2, otic capsule, OTIC CAPSULE, DISEASE, THYMOCYTE DEVELOPMENT, MEASLES-VIRUS, SNP GENOTYPING DATA, II COLLAGEN AUTOIMMUNITY, ASSOCIATION, GENE

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Citation

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MLA
Schrauwen, I, Koen Venken, K Vanderstraeten, et al. “Involvement of T-cell Receptor-beta Alterations in the Development of Otosclerosis Linked to OTSC2.” GENES AND IMMUNITY 11.3 (2010): 246–253. Print.
APA
Schrauwen, I, Venken, K., Vanderstraeten, K., Thys, M., Hendrickx, J., Fransen, E., Van Laer, L., et al. (2010). Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2. GENES AND IMMUNITY, 11(3), 246–253.
Chicago author-date
Schrauwen, I, Koen Venken, K Vanderstraeten, M Thys, JJ Hendrickx, E Fransen, Lut Van Laer, et al. 2010. “Involvement of T-cell Receptor-beta Alterations in the Development of Otosclerosis Linked to OTSC2.” Genes and Immunity 11 (3): 246–253.
Chicago author-date (all authors)
Schrauwen, I, Koen Venken, K Vanderstraeten, M Thys, JJ Hendrickx, E Fransen, Lut Van Laer, PJ Govaerts, M Verstreken, I Schatteman, P Stinissen, N Hellings, and G Van Camp. 2010. “Involvement of T-cell Receptor-beta Alterations in the Development of Otosclerosis Linked to OTSC2.” Genes and Immunity 11 (3): 246–253.
Vancouver
1.
Schrauwen I, Venken K, Vanderstraeten K, Thys M, Hendrickx J, Fransen E, et al. Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2. GENES AND IMMUNITY. 2010;11(3):246–53.
IEEE
[1]
I. Schrauwen et al., “Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2,” GENES AND IMMUNITY, vol. 11, no. 3, pp. 246–253, 2010.
@article{946066,
  abstract     = {Otosclerosis is a common form of hearing loss, characterized by disordered bone remodeling in the otic capsule. Within the otosclerotic foci, several immunocompetent cells and immune-modulating factors can be found. Different etiological theories involving the immune system have been suggested. However, a genetic component is clearly present. In large otosclerosis families, seven autosomal-dominant loci have been found, but none of the disease-causing genes has been identified. This study focused on the exploration of the second otosclerosis locus on chromosome 7q34-36 (OTSC2), holding the T-cell receptor beta locus (TRB locus). A significantly lower T-cell receptor-beta (TCR-beta) mRNA expression and percentage of blood circulating TCR-alpha beta(+) T cells was detected in OTSC2 patients compared with controls and patients with the complex form of the disease. Further analysis illustrated more significant disturbances in specific T-cell subsets, including an increased CD28(null) cell population, suggesting a disturbed T-cell development and ageing in OTSC2 patients. These disturbances could be associated with otosclerotic bone remodeling, given the known effects of immunocompetent cells on bone physiology. These data implicate the TRB locus as the causative gene in the OTSC2 region and represent an important finding in the elucidation of the disease pathology. Genes and Immunity (2010) 11, 246-253; doi:10.1038/gene.2010.3; published online 25 February 2010},
  author       = {Schrauwen, I and Venken, Koen and Vanderstraeten, K and Thys, M and Hendrickx, JJ and Fransen, E and Van Laer, Lut and Govaerts, PJ and Verstreken, M and Schatteman, I and Stinissen, P and Hellings, N and Van Camp, G},
  issn         = {1466-4879},
  journal      = {GENES AND IMMUNITY},
  keywords     = {LOCUS,HIDDEN-MARKOV MODEL,otosclerosis,TCR-beta,TCRB,CD28(null) cells,OTSC2,otic capsule,OTIC CAPSULE,DISEASE,THYMOCYTE DEVELOPMENT,MEASLES-VIRUS,SNP GENOTYPING DATA,II COLLAGEN AUTOIMMUNITY,ASSOCIATION,GENE},
  language     = {eng},
  number       = {3},
  pages        = {246--253},
  title        = {Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2},
  url          = {http://dx.doi.org/10.1038/gene.2010.3},
  volume       = {11},
  year         = {2010},
}

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