Genetic Predisposition To Irritable Bowel Syndrome Strengthened Interview with:
Mauro D’Amato
Ikerbasque Research Professor
Head, Unit of Gastrointestinal Genetics, Department of Gastrointestinal and Liver Diseases
BioDonostia Health Research Institute
San Sebastian, Spain What is the background for this study? What are the main findings?

Response: Irritable bowel syndrome (IBS) is a very common condition, whose underlying pathophysiology is poorly understood. People with IBS often complain certain foods trigger their symptoms and, at least in some patients, incomplete breakdown of carbohydrates may result in malabsorption with diarrhoea, bloating and abdominal pain. At the extreme of the spectrum of such clinical manifestations, this is what happens in a hereditary form of sucrose intolerance, the congenital sucrase-isomaltase deficiency (CSID) due to mutations in the Si gene that lead to defective enzymatic disaccharidase activity in the gut. Because IBS shows genetic predisposition, we tested the hypothesis that mutations and DNA variants affecting SI enzyme function may confer increased risk of IBS. We studied almost 2000 individuals from several clinics from Europe and USA, and found out that rare SI mutations and other more common defective DNA variants are indeed more frequent in patients than healthy controls. What should readers take away from your report?

Response: That the evidence for genetic predisposition in IBS is strengthened. And that carrying particular DNA variants in the sucrase-isomaltase gene may increase IBS risk by affecting people’s ability to adequately process and digest carbohydrates (disaccharides). What recommendations do you have for future research as a result of this study?

Response: More research may be needed before this eventually impacts the clinical management of IBS patients. Howerver, this should not take long, since we now know at least one place where to look. It shall be possible to quickly scan through the entire SI gene for other mutations and relevant functional variants increasing IBS risk through carb malabsorption, in order to assess their biomarker potential for stratifying IBS patients and personalizing treatment options in those with SI genetic defects. Is there anything else you would like to add?

Response: IBS is an extremely complex and heterogenous condition, which requires remarkably large studies of several thousand patients in order to identfy unequivocal genetic predisposing factors. We have just launched one such collaborative project, the bellygenes initiative, and welcome clinical and research partners who may be interested to join ( Thank you for your contribution to the community.

Maria Henström, Lena Diekmann, Ferdinando Bonfiglio, Fatemeh Hadizadeh, Eva-Maria Kuech, Maren von Köckritz-Blickwede, Louise B Thingholm, Tenghao Zheng, Ghazaleh Assadi, Claudia Dierks, Martin Heine, Ute Philipp, Ottmar Distl, Mary E Money, Meriem Belheouane, Femke-Anouska Heinsen, Joseph Rafter, Gerardo Nardone, Rosario Cuomo, Paolo Usai-Satta, Francesca Galeazzi, Matteo Neri, Susanna Walter, Magnus Simren, Pontus Karling, Bodil Ohlsson, Peter T Schmidt, Greger Lindberg, Aldona Dlugosz, Lars Agreus, Anna Andreasson, Emeran Mayer, John F Baines, Lars Engstrand, Piero Portincasa, Massimo Bellini, Vincenzo Stanghellini, Giovanni Barbara, Lin Chang, Michael Camilleri, Andre Franke, Hassan Y Naim, Mauro D’Amato. Functional variants in the sucrase–isomaltase gene associate with increased risk of irritable bowel syndrome. Gut, November 2016 DOI: 10.1136/gutjnl-2016-312456

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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