Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease

Sheila A Fisher, Mark Tremelling, Carl A Anderson, Rhian Gwilliam, Suzannah Bumpstead, Natalie J Prescott, Elaine R Nimmo, Dunecan Massey, Carlo Berzuini, Christopher Johnson, Jeffrey C Barrett, Fraser R Cummings, Hazel Drummond, Charlie W Lees, Clive M Onnie, Catherine E Hanson, Katarzyna Blaszczyk, Mike Inouye, Philip Ewels, Radhi RavindrarajahAndrew Keniry, Sarah Hunt, Martyn Carter, Nick Watkins, Willem Ouwehand, Cathryn M Lewis, Lon Cardon, Alan Lobo, Alastair Forbes, Jeremy Sanderson, Derek P Jewell, John C Mansfield, Panos Deloukas, Christopher G Mathew, Miles Parkes, Jack Satsangi, Wellcome Trust Case Control Consortium

Research output: Contribution to journalArticlepeer-review

377 Citations (Scopus)


We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.
Original languageEnglish
Pages (from-to)710-2
Number of pages3
JournalNature Genetics
Issue number6
Publication statusPublished - Jun 2008


  • Biological Markers
  • Carrier Proteins
  • Case-Control Studies
  • Cohort Studies
  • Colitis, Ulcerative
  • Crohn Disease
  • Extracellular Matrix Proteins
  • GTP-Binding Proteins
  • Genetic Predisposition to Disease
  • HLA-A Antigens
  • Homeodomain Proteins
  • Humans
  • Interleukin-12 Subunit p40
  • Nod2 Signaling Adaptor Protein
  • Polymorphism, Single Nucleotide
  • Protein-Serine-Threonine Kinases
  • Receptors, Interleukin
  • Risk Factors

Cite this