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Type: Journal article
Title: Mechanisms of Disease: genetics of functional gastrointestinal disorders - searching the genes that matter
Author: Adam, B.
Liebregts, T.
Holtmann, G.
Citation: Nature Clinical Practice Gastroenterology & Hepatology, 2007; 4(2):102-110
Publisher: Nature Publishing Group
Issue Date: 2007
ISSN: 1743-4378
Statement of
Birgit Adam, Tobias Liebregts and Gerald Holtmann
Abstract: There is evidence to suggest that genetic factors contribute to the manifestation of functional gastrointestinal disorders (FGID). As such, it is important to note that FGID are heterogeneous; they have quite different clinical features and (probably) different underlying pathophysiologic mechanisms. Evidence from family and twin studies indicates that there is clustering of FGID in families and increased concordance in monozygotic compared with dizygotic twins. The clinical features of FGID implicate polymorphisms in the genes that encode adrenergic, opioidergic or serotonergic receptors, as well as in the G-protein 3 subunit (GNB3) gene and serotonin-transporter genes, in their manifestations. As mediators or regulators of mucosal inflammation can trigger events that ultimately result in manifestations of FGID, polymorphisms in genes that encode proteins with immunomodulatory and/or neuromodulatory features (e.g. OPRM1, IL4, IL4R, TNF) might also have a role in the manifestation of FGID. A two-step model for the role of genetic factors in the manifestation of functional gastrointestinal pain can, therefore, be proposed. In the presence of specific hereditary factors, environmental factors that do not usually cause long-term functional alterations are linked to the manifestation of symptoms.
Keywords: functional gastrointestinal disorders; genetic factors; irritable bowel syndrome; pathophysiology
Description: Copyright © 2007 Nature Publishing Group
RMID: 0020070131
DOI: 10.1038/ncpgasthep0717
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Appears in Collections:Medicine publications

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