Genetics and genotypes in irritable bowel syndrome: implications for diagnosis and treatment

Gastroenterol Clin North Am. 2005 Jun;34(2):305-17. doi: 10.1016/j.gtc.2005.02.009.


Several twin studies and familial aggregation studies in IBS are consistent with either a genetic or a social learning hypothesis, and it is possible that both play a role. The prospect of identifying a genetic cause for IBS may be very important, because it raises the possibility of confirming that IBS isa disease entity, suggests new insight into the pathophysiology of the disorder, and provides new targets for drug development. Several candidate genetic markers including: those related to cytokines such as IL-10, TNF-alpha and TGF beta1; SERT-P; alpha-adrenergic receptors; and G proteins have been associated with certain aspects of IBS. Genetic polymorphisms,however, are common and may have no etiological or pathogenetic relevance. Searching for the genes in IBS is of potentially great relevance. Such studies may identify more specific phenotypes in IBS or potentially predict increased disease vulnerability, but it is unlikely that this strategy will lead to a diagnostic test, given the limited component of IBS that is likely to be genetically determined. Pharmaco genomic studies have potential to be important in the future. For this potential to be realized, it will be necessary to formally include genetic studies in trials of experimental drugs.This would enhance understanding of one of the roles of genetics for treating IBS.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • GTP-Binding Proteins / genetics
  • Genotype
  • Humans
  • Irritable Bowel Syndrome / diagnosis
  • Irritable Bowel Syndrome / genetics*
  • Irritable Bowel Syndrome / therapy
  • Membrane Glycoproteins / genetics
  • Membrane Transport Proteins / genetics
  • Nerve Tissue Proteins / genetics
  • Polymorphism, Genetic
  • Receptors, Adrenergic, alpha-2 / genetics
  • Serotonin Plasma Membrane Transport Proteins


  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • Receptors, Adrenergic, alpha-2
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • GTP-Binding Proteins