M Camilleri1. 1. Clinical Enteric Neuroscience Translational and Epidemiological Research (C.E.N.T.E.R.), College of Medicine, Mayo Clinic, Rochester, MN 55905, USA. camilleri.michael@mayo.edu
Abstract
PURPOSE: The objective was to review the genetics of human visceral pain with particular emphasis on pain associated with irritable bowel syndrome. BACKGROUND: The biomarkers most commonly employed in identifying visceral hypersensitivity are sensation ratings and thresholds or brain imaging during viscus (e.g., rectal) distension. Genetic studies suggest that variation in the control of candidate genes involved in ion channel function, neurotransmitter synthesis, reuptake or receptor functions, and inflammatory disease susceptibility loci may impact variations in prevalence of the symptom phenotype of abdominal pain or IBS, or quantitative traits (intermediate phenotypes) of rectal sensation. The candidate genes include SLC6A4, CNR1, and TNFSF15 reflecting serotonin reuptake, cannabinoid receptors, and inflammatory-barrier functions. However, other than TNFSF15, the other candidate genes are only univariately associated with pain, IBS symptom complex, or quantitative traits of sensation. These data have generated hypotheses and present opportunities for study of mechanisms and treatment of visceral pain in humans, which remains an unmet clinical need in patients with IBS and functional abdominal pain.
PURPOSE: The objective was to review the genetics of humanvisceral pain with particular emphasis on pain associated with irritable bowel syndrome. BACKGROUND: The biomarkers most commonly employed in identifying visceral hypersensitivity are sensation ratings and thresholds or brain imaging during viscus (e.g., rectal) distension. Genetic studies suggest that variation in the control of candidate genes involved in ion channel function, neurotransmitter synthesis, reuptake or receptor functions, and inflammatory disease susceptibility loci may impact variations in prevalence of the symptom phenotype of abdominal pain or IBS, or quantitative traits (intermediate phenotypes) of rectal sensation. The candidate genes include SLC6A4, CNR1, and TNFSF15 reflecting serotonin reuptake, cannabinoid receptors, and inflammatory-barrier functions. However, other than TNFSF15, the other candidate genes are only univariately associated with pain, IBS symptom complex, or quantitative traits of sensation. These data have generated hypotheses and present opportunities for study of mechanisms and treatment of visceral pain in humans, which remains an unmet clinical need in patients with IBS and functional abdominal pain.
Authors: Alexandra-Chloé Villani; Mathieu Lemire; Marroon Thabane; Alexandre Belisle; Geneviève Geneau; Amit X Garg; William F Clark; Paul Moayyedi; Stephen M Collins; Denis Franchimont; John K Marshall Journal: Gastroenterology Date: 2010-01-04 Impact factor: 22.682
Authors: Mats B O Larsson; Kirsten Tillisch; A D Craig; Maria Engström; Jennifer Labus; Bruce Naliboff; Peter Lundberg; Magnus Ström; Emeran A Mayer; Susanna A Walter Journal: Gastroenterology Date: 2011-11-19 Impact factor: 22.682
Authors: Johannes Kapeller; Lesley A Houghton; Hubert Mönnikes; Jutta Walstab; Dorothee Möller; Heinz Bönisch; Barbara Burwinkel; Frank Autschbach; Benjamin Funke; Felix Lasitschka; Nikolaus Gassler; Christine Fischer; Peter J Whorwell; Wendy Atkinson; Catherine Fell; Karl J Büchner; Marco Schmidtmann; Ivo van der Voort; Anna-Sophia Wisser; Thomas Berg; Gudrun Rappold; Beate Niesler Journal: Hum Mol Genet Date: 2008-07-09 Impact factor: 6.150
Authors: Michael Camilleri; Paula Carlson; Alan R Zinsmeister; Sanna McKinzie; Irene Busciglio; Duane Burton; Marco Zucchelli; Mauro D'Amato Journal: Gastroenterology Date: 2009-09-02 Impact factor: 22.682
Authors: Ruth Kohen; Monica E Jarrett; Kevin C Cain; Sang-Eun Jun; Grace P Navaja; Sarah Symonds; Margaret M Heitkemper Journal: Dig Dis Sci Date: 2009-12 Impact factor: 3.199
Authors: Claire J Han; Ruth Kohen; Sangeun Jun; Monica E Jarrett; Kevin C Cain; Robert Burr; Margaret M Heitkemper Journal: Nurs Res Date: 2017 Mar/Apr Impact factor: 2.381
Authors: Emeran A Mayer; Jennifer S Labus; Kirsten Tillisch; Steven W Cole; Pierre Baldi Journal: Nat Rev Gastroenterol Hepatol Date: 2015-08-25 Impact factor: 46.802