Current concepts on the genetics and pharmacogentics of inflammatory bowel disease

Do they help in clinical management?

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The pathogenesis of inflammatory bowel disease is only partially understood; various environmental and host (e.g. genetic-, epithelial-, immune and non-immune) factors are involved. It is a multifactorial polygenic disease with probable genetic heterogeneity. Much of the recent emphasis in inflammatory bowel disease genetics research has been directed at the evaluation of candidate disease susceptibility genes within inflammatory bowel disease linkage intervals. Such studies have elucidated associations of numerous gene variants (e.g. NOD2/CARD15, SLC22A4/A5 and DLG5) with inflammatory bowel disease, but most of these require further replication and functional validation. Some genes are associated with inflammatory bowel disease itself, while others increase the risk of ulcerative colitis or Crohn's disease or are associated with disease location and/or behaviour. Recently, some new data also indicated at a possible role for genetics in predicting therapeutic success (e.g. response to infliximab or steroids). Genetic information acquired in recent years helps in understanding the pathogenesis of inflammatory bowel disease and identifying a number of potential targets for therapeutic intervention. In the future, genetics may also help in more accurate diagnosis and prediction of disease course and response to therapy in inflammatory bowel disease.

Original languageEnglish
Pages (from-to)149-162
Number of pages14
JournalCurrent Genomics
Volume7
Issue number3
DOIs
Publication statusPublished - May 2006

Fingerprint

Genetic Phenomena
Inflammatory Bowel Diseases
Genes
Genetic Research
Genetic Heterogeneity
Disease Susceptibility
Ulcerative Colitis
Crohn Disease
Therapeutics
Steroids

Keywords

  • Crohn's disease
  • DLG5
  • Genetics
  • Inflammatory bowel disease
  • NOD2/CARD15
  • SLC22A4/A5
  • Thiopathogenesis
  • Ulcerative colitis

ASJC Scopus subject areas

  • Genetics

Cite this

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abstract = "The pathogenesis of inflammatory bowel disease is only partially understood; various environmental and host (e.g. genetic-, epithelial-, immune and non-immune) factors are involved. It is a multifactorial polygenic disease with probable genetic heterogeneity. Much of the recent emphasis in inflammatory bowel disease genetics research has been directed at the evaluation of candidate disease susceptibility genes within inflammatory bowel disease linkage intervals. Such studies have elucidated associations of numerous gene variants (e.g. NOD2/CARD15, SLC22A4/A5 and DLG5) with inflammatory bowel disease, but most of these require further replication and functional validation. Some genes are associated with inflammatory bowel disease itself, while others increase the risk of ulcerative colitis or Crohn's disease or are associated with disease location and/or behaviour. Recently, some new data also indicated at a possible role for genetics in predicting therapeutic success (e.g. response to infliximab or steroids). Genetic information acquired in recent years helps in understanding the pathogenesis of inflammatory bowel disease and identifying a number of potential targets for therapeutic intervention. In the future, genetics may also help in more accurate diagnosis and prediction of disease course and response to therapy in inflammatory bowel disease.",
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