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- Title
Definition of polymorphisms and haplotypes in the interleukin-12B gene: association with IL-12 production but not with Crohn's disease.
- Authors
Zwiers, A; Seegers, D; Heijmans, R; Koch, A; Hampe, J; Nikolaus, S; Peña, A S; Schreiber, S; Bouma, G
- 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.Genes and Immunity (2004) 5, 675-677. doi:10.1038/sj.gene.6364131 Published online 14 October 2004
- Subjects
INTERLEUKIN-12; CYTOKINES; IMMUNE response; AUTOIMMUNE diseases; CROHN'S disease
- Publication
Genes & Immunity, 2004, Vol 5, Issue 8, p675
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/sj.gene.6364131