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Start Over Author "Kuech, Eva Maria" Topic irritable bowel syndrome
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1. Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.

Author

Henström M, Diekmann L, Bonfiglio F, Hadizadeh F, Kuech EM, von Köckritz-Blickwede M, Thingholm LB, Zheng T, Assadi G, Dierks C, Heine M, Philipp U, Distl O, Money ME, Belheouane M, Heinsen FA, Rafter J, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Walter S, Simrén M, Karling P, Ohlsson B, Schmidt PT, Lindberg G, Dlugosz A, Agreus L, Andreasson A, Mayer E, Baines JF, Engstrand L, Portincasa P, Bellini M, Stanghellini V, Barbara G, Chang L, Camilleri M, Franke A, Naim HY, and D'Amato M

Subjects
Adult, Animals, Carbohydrate Metabolism, Inborn Errors genetics, Case-Control Studies, Cell Line, Cell Membrane enzymology, DNA Mutational Analysis, Defecation genetics, Diarrhea etiology, Exons, Feces microbiology, Female, Gene Dosage, Genotype, Haplorhini, Humans, Irritable Bowel Syndrome complications, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Risk Factors, Sucrase-Isomaltase Complex deficiency, Transfection, Irritable Bowel Syndrome enzymology, Irritable Bowel Syndrome genetics, Sucrase-Isomaltase Complex genetics, Sucrase-Isomaltase Complex metabolism
Abstract

Objective: IBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features common to IBS. We tested sucrase-isomaltase ( SI ) gene variants for their potential relevance in IBS., Design: We sequenced SI exons in seven familial cases, and screened four CSID mutations (p.Val557Gly, p.Gly1073Asp, p.Arg1124Ter and p.Phe1745Cys) and a common SI coding polymorphism (p.Val15Phe) in a multicentre cohort of 1887 cases and controls. We studied the effect of the 15Val to 15Phe substitution on SI function in vitro. We analysed p.Val15Phe genotype in relation to IBS status, stool frequency and faecal microbiota composition in 250 individuals from the general population., Results: CSID mutations were more common in patients than asymptomatic controls (p=0.074; OR=1.84) and Exome Aggregation Consortium reference sequenced individuals (p=0.020; OR=1.57). 15Phe was detected in 6/7 sequenced familial cases, and increased IBS risk in case-control and population-based cohorts, with best evidence for diarrhoea phenotypes (combined p=0.00012; OR=1.36). In the population-based sample, 15Phe allele dosage correlated with stool frequency (p=0.026) and Parabacteroides faecal microbiota abundance (p=0.0024). The SI protein with 15Phe exhibited 35% reduced enzymatic activity in vitro compared with 15Val (p<0.05)., Conclusions: SI gene variants coding for disaccharidases with defective or reduced enzymatic activity predispose to IBS. This may help the identification of individuals at risk, and contribute to personalising treatment options in a subset of patients., Competing Interests: Competing interests: The work was partially financed by an unrestricted grant from Medical Need Europe AB to MDA. MDA and HYN have received unrestricted research grants and lecturing honoraria from QOL Medical, and LC has served on a scientific advisory board for QOL Medical., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.)

Published
2018
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2. Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome

Author

Piero Portincasa, Fatemeh Hadizadeh, Gerardo Nardone, Giovanni Barbara, Lars Engstrand, Ghazaleh Assadi, Anna Andreasson, Louise B. Thingholm, Emeran A. Mayer, Lars Agréus, Lena Diekmann, John F. Baines, Martin Heine, Mauro D'Amato, Rosario Cuomo, Ottmar Distl, Ute Philipp, Aldona Dlugosz, Vincenzo Stanghellini, Magnus Simrén, Pontus Karling, Eva Maria Kuech, Andre Franke, C. Dierks, Matteo Neri, Michael Camilleri, Maria Henström, Maren von Köckritz-Blickwede, Ferdinando Bonfiglio, Susanna Walter, Hassan Y. Naim, Bodil Ohlsson, Mary E. Money, Greger Lindberg, Meriem Belheouane, Peter T. Schmidt, Lin Chang, Joseph Rafter, Paolo Usai-Satta, Francesca Galeazzi, Massimo Bellini, Femke-Anouska Heinsen, Tenghao Zheng, Henström, Maria, Diekmann, Lena, Bonfiglio, Ferdinando, Hadizadeh, Fatemeh, Kuech, Eva Maria, von Köckritz Blickwede, Maren, Thingholm, Louise B, Zheng, Tenghao, Assadi, Ghazaleh, Dierks, Claudia, Heine, Martin, Philipp, Ute, Distl, Ottmar, Money, Mary E, Belheouane, Meriem, Heinsen, Femke Anouska, Rafter, Joseph, Nardone, GERARDO ANTONIO PIO, Cuomo, Rosario, Usai Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Walter, Susanna, Simrén, Magnu, Karling, Pontu, Ohlsson, Bodil, Schmidt, Peter T, Lindberg, Greger, Dlugosz, Aldona, Agreus, Lar, Andreasson, Anna, Mayer, Emeran, Baines, John F, Engstrand, Lar, Portincasa, Piero, Bellini, Massimo, Stanghellini, Vincenzo, Barbara, Giovanni, Chang, Lin, Camilleri, Michael, Franke, Andre, Naim, Hassan Y, D'Amato, Mauro, Kuech, Eva-Maria, von Köckritz-Blickwede, Maren, Thingholm, Louise B., Money, Mary E., Heinsen, Femke-Anouska, Nardone, Gerardo, Usai-Satta, Paolo, Schmidt, Peter T., Baines, John F., and Naim, Hassan Y.

Subjects
Male, DNA Mutational Analysis, Gene Dosage, DIARRHOEA, Bioinformatics, GENETICS, IRRITABLE BOWEL SYNDROME, POLYMORPHIC VARIATION, Adult, Animals, Carbohydrate Metabolism, Inborn Errors, Case-Control Studies, Cell Line, Cell Membrane, Defecation, Diarrhea, Exons, Feces, Female, Genotype, Haplorhini, Humans, Irritable Bowel Syndrome, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Risk Factors, Sucrase-Isomaltase Complex, Transfection, Gastroenterology, Sucrase-isomaltase complex, Pathogenesis, 0302 clinical medicine, Irritable bowel syndrome, 2. Zero hunger, Genetics, Inborn Errors, Single Nucleotide, 3. Good health, 030220 oncology & carcinogenesis, Medical genetics, Carbohydrate Metabolism, 030211 gastroenterology & hepatology, medicine.symptom, Sucrase-isomaltase, medicine.medical_specialty, Gastroenterology and Hepatology, Biology, Gene dosage, Neurogastroenterology, 03 medical and health sciences, medicine, Gastroenterologi, Polymorphism, Case-control study, medicine.disease
Abstract

ObjectiveIBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucrase–isomaltase deficiency (CSID) is a rare genetic form of disaccharide malabsorption characterised by diarrhoea, abdominal pain and bloating, which are features common to IBS. We tested sucrase–isomaltase (SI) gene variants for their potential relevance in IBS.DesignWe sequenced SI exons in seven familial cases, and screened four CSID mutations (p.Val557Gly, p.Gly1073Asp, p.Arg1124Ter and p.Phe1745Cys) and a common SI coding polymorphism (p.Val15Phe) in a multicentre cohort of 1887 cases and controls. We studied the effect of the 15Val to 15Phe substitution on SI function in vitro. We analysed p.Val15Phe genotype in relation to IBS status, stool frequency and faecal microbiota composition in 250 individuals from the general population.ResultsCSID mutations were more common in patients than asymptomatic controls (p=0.074; OR=1.84) and Exome Aggregation Consortium reference sequenced individuals (p=0.020; OR=1.57). 15Phe was detected in 6/7 sequenced familial cases, and increased IBS risk in case–control and population-based cohorts, with best evidence for diarrhoea phenotypes (combined p=0.00012; OR=1.36). In the population-based sample, 15Phe allele dosage correlated with stool frequency (p=0.026) and Parabacteroides faecal microbiota abundance (p=0.0024). The SI protein with 15Phe exhibited 35% reduced enzymatic activity in vitro compared with 15Val (pConclusionsSI gene variants coding for disaccharidases with defective or reduced enzymatic activity predispose to IBS. This may help the identification of individuals at risk, and contribute to personalising treatment options in a subset of patients.

Published
2018

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