Genetic epidemiology

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Abstract

The objectives of this review are twofold. Our first objective is to evaluate the evidence supporting a role for genetics in irritable bowel syndrome (IBS). Specific examples of the associations of genetic variation and symptoms, syndromes, and intermediate phenotypes, including neurotransmitter (serotonergic, α(2)-adrenergic, and cannabinoid) mechanisms, inflammatory pathways (IL-10, TNFα, GNβ3, and susceptibility loci involved in Crohn’s disease), and metabolism, are explored. The second objective is to review pharmacogenetics in IBS, with the focus on cytochrome P-450 metabolism of drugs used in IBS, modulation of motor and sensory responses to serotonergic agents based on the 5-hydroxytryptamine (5-HT) transporter-linked polymorphic region (5-HTTLPR) and 5-HT(3) genetic variants, responses to a nonselective cannabinoid agonist (dronabinol) based on cannabinoid receptor (CNR1) and fatty acid amide hydrolase (FAAH) variation, and responses to a (sodium chenodeoxycholate) and binding (colesevelam) based on klothoβ (KLB) and fibroblast 4 (FGFR4) variation. Overall, there is limited evidence of a genetic association with IBS; the most frequently studied association is with 5-HTTLPR, and the most replicated association is with TNF superfamily member 15. Most of the pharmacogenetic associations are reported with intermediate phenotypes in relatively small trials, and confirmation in large clinical trials using validated clinical end points is still required. No published genome-wide association studies in functional gastrointestinal or motility disorders have been published.

Camilleri M, Katzka DA.
Source

Mayo Clinic, Charlton 8-110, 200 First St. SW, Rochester, MN 55905. [email protected]

Full Text Source Genetic epidemiology and pharmacogenetics in irritable bowel syndrome.

About Robert Hill

I founded IDEAS Intestinal Disease Education and Awareness Society, from my home base in Vancouver, British Columbia. Intestinal Disease Education and Awareness Society IDEAS is established to raise public awareness of intestinal diseases in order to help remove the stigmas associated with these illnesses. The programs of IDEAS help children, youth and young adults learn to live full lives, find acceptance and gain confidence.

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