Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease

Mark G. Olavesen, Jochen Hampe, Muddassar M. Mirza, Robert Saiz, Cathryn M. Lewis, Stephen Bridger, Dawn Teare, Douglas F. Easton, Torsten Herrmann, Gillian Scott, Jo Hirst, Jeremy Sanderson, Shirley V. Hodgson, John Lee, Andrew MacPherson, Stefan Schreiber, John E. Lennard-Jones, Mark E. Curran, Christopher G. Mathew

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Genetic linkage analysis in families with multiple cases of inflammatory bowel disease (IBD) has mapped a gene which confers susceptibility to IBD to the pericentromeric region of chromosome 16 (IBD1). The linked region includes the interleukin(IL)-4 receptor gene (IL4R). Since IL-4 regulation and expression are abnormal in IBD, the IL4R gene is thus both a positional and functional candidate for IBD1. We screened the gene for single-nucleotide polymorphisms (SNPs) by fluorescent chemical cleavage analysis, and tested a subset of known and novel SNPs for allelic association with IBD in 355 families, which included 435 cases of Crohn's disease and 329 cases of ulcerative colitis. No association was observed between a haplotype of four SNPs (val50ile, gln576arg, A3044G, G3289A) and either the Crohn's disease or ulcerative colitis phenotypes using the transmission disequilibrium test. There was also no evidence for association when the four markers were analyzed individually. The results indicate that these variants are not significant genetic determinants of IBD, and that the IL4R gene is unlikely to be IBD1. Linkage disequilibrium analyses showed that the val50ile and gln576arg variants are in complete equilibrium with each other, although they are separated by only about 21 kilobases of genomic DNA. This suggests that a very dense SNP map may be required to exclude or detect disease associations with some candidate genes.

Original languageEnglish
Pages (from-to)1-7
Number of pages7
Issue number1
StatePublished - 2000
Externally publishedYes


  • Association
  • Crohn's
  • Inflammatory bowel
  • Interleukin-4 receptor
  • Ulcerative colitis


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