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Digestive Diseases and Sciences
Published in: Digestive Diseases and Sciences 11/2009

01-11-2009 | Review

Genetics and Irritable Bowel Syndrome: From Genomics to Intermediate Phenotype and Pharmacogenetics

Author: Michael Camilleri

Published in: Digestive Diseases and Sciences | Issue 11/2009

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Abstract

Purpose

Familial aggregation and sibling pair studies suggest there is a genetic contribution to the development of irritable bowel syndrome (IBS). The aim of this study was to review the evidence of genetics in IBS based on genetic epidemiology, studies of association with intermediate phenotypes and pharmacogenetics.

Results

Genetic association studies with IBS symptom phenotype have generally provided inconsistent results for many candidate genes investigated, such as SLC6A4, GNB3, and IL-10. There have been no genome-wide association studies in IBS to date. Studies of associations of candidate genes with intermediate phenotypes suggest associations with pathophysiological mechanisms of motor and sensory functions; however, these results also require replication. Pharmacogenetics studies illustrate the potential of genetics to impact on response to therapy, as observed with SLC6A4 and responses to the 5-HT3 antagonist alosetron and the 5-HT4 agonist, tegaserod.

Conclusions

While the heritable component and genetics in the complex disorder of IBS are still poorly understood, studies of the associations of spontaneous genetic variations and altered functions may provide novel insights of the mechanisms contributing to the disease.
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Metadata
Title
Genetics and Irritable Bowel Syndrome: From Genomics to Intermediate Phenotype and Pharmacogenetics
Author
Michael Camilleri
Publication date
01-11-2009
Publisher
Springer US
Published in
Digestive Diseases and Sciences / Issue 11/2009
Print ISSN: 0163-2116
Electronic ISSN: 1573-2568
DOI
https://doi.org/10.1007/s10620-009-0903-4

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