The genetics of inflammatory bowel disease

Johan Van Limbergen*, Richard K. Russell, Elaine R. Nimmo, Jack Satsangi

*Corresponding author for this work

Research output: Contribution to journalLiterature reviewpeer-review

Abstract

Great progress in the understanding of the molecular genetics of inflammatory bowel disease (IBD) has been made over the last 10 years. Strong epidemiological evidence, based initially on concordance data in twin/family studies, led to the application of genome-wide linkage analysis involving multiply affected families and the identification of a number of susceptibility loci. Further characterization of the IBD1 locus on chromosome 16 led to the discovery of the NOD2/CARD15 gene as the first susceptibility gene in Crohn's disease for 2001. This landmark finding has led to a redirection of basic research in IBD with interest focused principally on regulation of the innate immune response and mucosal barrier function. Within the last year, the use of genome-wide association studies has provided new insights into primary pathogenetic mechanisms; several new genes such as the Interleukin-23 receptor (IL23R) and ATG16L1 (autophagy-related 16-like 1) genes are strongly implicated. Overall, these studies promise to change our fundamental understanding of IBD pathophysiology and to have implications for clinical practice.

Original languageEnglish
Pages (from-to)2820-2831
Number of pages12
JournalThe American Journal of Gastroenterology
Volume102
Issue number12
DOIs
Publication statusPublished - Dec 2007

Keywords

  • ULCERATIVE-COLITIS
  • GENOTYPE-PHENOTYPE ANALYSIS
  • GENOME-WIDE ASSOCIATION
  • NECROSIS-FACTOR-ALPHA
  • EAST-ANGLIA PANEL
  • INTESTINAL EPITHELIAL-CELLS
  • COMPLEX INSERTION/DELETION POLYMORPHISM
  • DLG5 R30Q VARIANT
  • ONSET CROHNS-DISEASE
  • CATION TRANSPORTER GENES

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