IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease

Mark Tremelling, Fraser Cummings, Sheila A Fisher, John Mansfield, Rhian Gwilliam, Andrew Keniry, Elaine R Nimmo, Hazel Drummond, Clive M Onnie, Natalie J Prescott, Jeremy Sanderson, Francesca Bredin, Carlo Berzuini, Alastair Forbes, Cathryn M Lewis, Lon Cardon, Panos Deloukas, Derek Jewell, Christopher G Mathew, Miles ParkesJack Satsangi

Research output: Contribution to journalArticlepeer-review

164 Citations (Scopus)


Identification of inflammatory bowel disease (IBD) susceptibility genes is key to understanding pathogenic mechanisms. Recently, the North American IBD Genetics Consortium provided compelling evidence for an association between ileal Crohn's disease (CD) and the IL23R gene using genome-wide association scanning. External replication is a priority, both to confirm this finding in other populations and to validate this new technique. We tested for association between IL23R and IBD in a large independent UK panel to determine the size of the effect and explore subphenotype correlation and interaction with CARD15.
Original languageEnglish
Pages (from-to)1657-64
Number of pages8
Issue number5
Publication statusPublished - May 2007


  • Adult
  • Case-Control Studies
  • Cohort Studies
  • Colitis, Ulcerative
  • Crohn Disease
  • England
  • Epistasis, Genetic
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Inflammatory Bowel Diseases
  • Male
  • Nod2 Signaling Adaptor Protein
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Receptors, Interleukin
  • Risk Factors
  • Scotland

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