Genome scan analyses and positional cloning strategy in IBD: successes and limitations

Best Pract Res Clin Gastroenterol. 2004 Jun;18(3):541-53. doi: 10.1016/j.bpg.2003.12.007.

Abstract

The past decade has witnessed a tremendous expansion of our knowledge-base of genetics of inflammatory bowel disease. To a large extent, this progress reflects the scientific innovation and impact of the human genome project, which has fueled many laboratory-based studies focusing on the molecular genetics of Crohn's disease and ulcerative colitis. The complementary strategies of genome-wide linkage scanning and candidate gene analysis uncovered a number of genetic loci associated with IBD susceptibility. Notably, the identification of the IBD1 and IBD5 loci is a major scientific discovery. Although many issues related to the function and expression of these genes await elucidation, there is a shared optimism that pivotal clinical applications will emerge from these investigations.

Publication types

  • Review

MeSH terms

  • Carrier Proteins / genetics
  • Chromosome Mapping
  • Cloning, Molecular
  • Gene Order
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genome Components
  • Humans
  • Inflammatory Bowel Diseases / diagnosis
  • Inflammatory Bowel Diseases / genetics*
  • Intracellular Signaling Peptides and Proteins*
  • Nod2 Signaling Adaptor Protein

Substances

  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein