Interleukin-4 and interleukin-4 receptor gene polymorphisms in inflammatory bowel diseases

Genes Immun. 2001 Aug;2(5):287-9. doi: 10.1038/sj.gene.6363779.


Imbalances in the regulation of Th1 and Th2 lymphocytes are crucial in inflammatory bowel diseases. Interleukin-4 is secreted by Th2 lymphocytes and downregulates cytokine production from Th1 lymphocytes. Functionally relevant polymorphisms have been described in the interleukin-4 and the interleukin-4 receptor alpha genes. Association of inflammatory bowel diseases with these polymorphisms has been reported recently suggesting high transcription and enhanced signalling activity in Crohn's disease. Our study, comprising 211 patients with Crohn's disease, 147 patients with ulcerative colitis and 446 healthy controls revealed significant association of Crohn's disease with the -590 T allele of the interleukin-4 gene (P = 0.03). This allele entails reduced expression of IL-4. The reason for these contrasting findings may be discussed in the context of a putatively predisposing allele in linkage disequilibrium with the alleles of the interleukin-4 gene.

Publication types

  • Comparative Study

MeSH terms

  • Alleles
  • Genotype
  • Heterozygote
  • Humans
  • Inflammatory Bowel Diseases / genetics*
  • Inflammatory Bowel Diseases / immunology*
  • Interleukin-4 / genetics*
  • Polymorphism, Genetic / genetics*
  • Receptors, Interleukin-4 / genetics*


  • Receptors, Interleukin-4
  • Interleukin-4