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

Nat Genet. 2008 Jun;40(6):710-2. doi: 10.1038/ng.145. Epub 2008 Apr 27.

Abstract

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.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • ATG16L1 protein, human
  • Autophagy-Related Proteins
  • Biomarkers
  • Carrier Proteins
  • ECM1 protein, human
  • Extracellular Matrix Proteins
  • HLA-A Antigens
  • Homeodomain Proteins
  • IL12B protein, human
  • IL23R protein, human
  • Interleukin-12 Subunit p40
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein
  • Receptors, Interleukin
  • STK4 protein, human
  • Protein-Serine-Threonine Kinases
  • GTP-Binding Proteins
  • IRGM protein, human