Role of the NFKB1 -94ins/delATTG promoter polymorphism in IBD and potential interactions with polymorphisms in the CARD15/NOD2, IKBL, and IL-1RN genes

Inflamm Bowel Dis. 2006 Jul;12(7):606-11. doi: 10.1097/01.ibd.0000225346.23765.6b.


Background: Recently, an association of the NFKB1 polymorphism -94ins/delATTG with ulcerative colitis (UC) has been reported. This 4-bp insertion/deletion polymorphism is localized in the promoter region of the NFKB1 gene and appears to be functionally relevant. The aim of the present study was to confirm the association of the -94ins/delATTG (W/D) NFKB1 promoter polymorphism with UC in a population of German origin and to test for a potential association with Crohn's disease (CD). Furthermore, potential interactions of the -94ins/delATTG polymorphism with the IKBL and the IL-1RN genes should be determined.

Materials and methods: The study population comprised 630 patients with CD, 365 patients with UC, and 974 healthy controls. Genotyping was performed using polymerase chain reaction and restriction fragment length polymorphism analysis. For statistical evaluation, the chi-square test and the Fisher exact test were used.

Results: No significant association of the W/D NFKB1 polymorphism with CD or UC was detected. In addition, no significant interactions between the -94ins/delATTG NFKB1 polymorphism and polymorphisms within the IKBL and the IL-1RN genes, respectively, were found in CD or UC. Also, no significant interactions of the NFKB1 polymorphism with mutations of the CARD15/NOD2 gene and with clinical phenotypes were detected in CD. Moreover, no associations of the NFKB1 polymorphism were found in UC depending on disease localization.

Conclusions: The present study could not confirm the reported association of the -94ins/delATTG NFKB1 polymorphism with UC and also found no evidence for a role of this polymorphism in CD. The results do not give evidence for a role of this NFKB1 polymorphism in the pathogenesis of UC and CD.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adolescent
  • Adult
  • Aged
  • Child
  • Female
  • Gene Deletion*
  • Histocompatibility Antigens Class II / genetics*
  • Humans
  • Inflammatory Bowel Diseases / genetics*
  • Interleukin 1 Receptor Antagonist Protein / genetics*
  • Male
  • Middle Aged
  • Mutation
  • NF-kappa B / genetics*
  • Nod2 Signaling Adaptor Protein / genetics*
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*


  • Adaptor Proteins, Signal Transducing
  • Histocompatibility Antigens Class II
  • Interleukin 1 Receptor Antagonist Protein
  • NF-kappa B
  • NFKBIL1 protein, human
  • Nod2 Signaling Adaptor Protein