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Definition of polymorphisms and haplotypes in the interleukin-12B gene: association with IL-12 production but not with Crohn's disease - Genes & Immunity

  • ️Bouma, G
  • ️Thu Oct 14 2004
  • Brief Communication
  • Published: 14 October 2004

Genes & Immunity volume 5, pages 675–677 (2004)Cite this article

Abstract

Interleukin-12 (IL-12) is a key cytokine for the induction of Th1 immune responses. Recently, functional polymorphisms in IL-12p40 (IL12B) were found to be associated with susceptibility to several autoimmune diseases. Similarly, variation in IL12B might be involved in susceptibility to Crohn's disease (CD), a chronic inflammatory bowel disorder associated with high IL-12 expression. We searched for additional polymorphism in IL12B and genotyped a large cohort of CD patients. Differential in vitro secretors of IL-12 were tested for polymorphism. Polymorphisms were analyzed using the intrafamilial transmission disequilibrium test (TDT) and by case–control analysis. A novel polymorphism was strongly associated with differential expression of IL-12. However, no association with susceptibility to CD was seen for this and other polymorphisms. The high level of conservation is consistent with the key regulatory role of IL-12. The lack of association with IL12B makes it unlikely that this gene is directly involved in the susceptibility to CD.

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Acknowledgements

This investigation received financial support from the CCFA (GB and ASP) and the Competence Network ‘Inflammatory Bowel Disease’ and the National Genome Research network (SS).

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Authors and Affiliations

  1. Laboratory of Immunogenetics, Vrije Universiteit Medical Center, Amsterdam, The Netherlands

    A Zwiers, D Seegers, R Heijmans, A S Peña & G Bouma

  2. Department of Gastroenterology, University of Kiel, Germany

    A Koch, J Hampe, S Nikolaus & S Schreiber

Authors

  1. A Zwiers

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  2. D Seegers

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  3. R Heijmans

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  4. A Koch

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  5. J Hampe

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  6. S Nikolaus

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  7. A S Peña

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  8. S Schreiber

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  9. G Bouma

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Corresponding author

Correspondence to G Bouma.

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Zwiers, A., Seegers, D., Heijmans, R. et al. Definition of polymorphisms and haplotypes in the interleukin-12B gene: association with IL-12 production but not with Crohn's disease. Genes Immun 5, 675–677 (2004). https://doi.org/10.1038/sj.gene.6364131

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  • Received: 26 May 2004

  • Accepted: 26 July 2004

  • Published: 14 October 2004

  • Issue Date: 01 December 2004

  • DOI: https://doi.org/10.1038/sj.gene.6364131

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