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

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

Henstrom, M. (author): Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden

Diekmann, L. (author): University of Veterinary Medicine Hannover,University of Vet Medical Hannover, Germany

Bonfiglio, F. (author): Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden

Hadizadeh, F. (author): Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden

Kuech, E. M. (author): University of Veterinary Medicine Hannover,Jonsson Comprehensive Cancer Center,University of Vet Medical Hannover, Germany,University of Calif Los Angeles, CA USA

von Kockritz-Blickwede, M. (author): University of Veterinary Medicine Hannover,University of Vet Medical Hannover, Germany

Thingholm, L. B. (author): Christian Albrechts University of Kiel, Germany

Zheng, T. H. (author): Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden

Assadi, G. (author): Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden

Dierks, C. (author): University of Veterinary Medicine Hannover,University of Vet Medical Hannover, Germany

Heine, M. (author): University of Veterinary Medicine Hannover,University of Vet Medical Hannover, Germany

Philipp, U. (author): University of Veterinary Medicine Hannover,University of Vet Medical Hannover, Germany

Distl, O. (author): University of Veterinary Medicine Hannover,University of Vet Medical Hannover, Germany

Money, M. E. (author): University of Maryland, MD 21201 USA; Meritus Medical Centre, MD USA

Belheouane, M. (author): Max Planck Institute Evolutionary Biol, Germany; Christian Albrechts University of Kiel, Germany

Andreasson, Anna (author): Karolinska Institutet,Stockholms universitet,Stressforskningsinstitutet,Karolinska Institute, Sweden; Stockholm University, Sweden,National Institute for Psychosocial Factors and Health, Stockholm

Rafter, J. (author): Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden

Nardone, G. (author): University of Naples Federico II,Federico II University Hospital, Italy

Cuomo, R. (author): University of Naples Federico II,Federico II University Hospital, Italy

Usai-Satta, P. (author): Azienda Ospedaliera Brotzu,University of Bari Aldo Moro, Italy,Azienda Osped G Brotzu, Italy

Galeazzi, F. (author): University Hospital of Padua,Padova University Hospital, Italy

Neri, M. (author): University G.d'Annunzio of Chieti-Pescara,GDAnnunzio University, Italy; University of GDAnnunzio, Italy

Walter, Susanna (author): Linköpings universitet,Linköping University,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Magtarmmedicinska kliniken

Simrén, Magnus, 1966 (author): Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition,University of North Carolina,University of Gothenburg, Sweden; University of N Carolina, NC USA

Karling, Pontus (author): Umeå University,Umeå universitet,Medicin,Umeå University, Sweden

Ohlsson, Bodil (author): Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups,Skåne University Hospital, Sweden; Lund University, Sweden

Schmidt, P. T. (author): Karolinska Institutet,Karolinska University Hospital, Sweden

Lindberg, G. (author): Karolinska Institutet,Karolinska University Hospital, Sweden

Dlugosz, A. (author): Karolinska Institutet,Karolinska Institute,Karolinska University Hospital, Sweden,Karolinska Institute, Sweden; BioDonostia Health Research Institute, Spain; Basque Science Fdn, Spain; Karolinska Institute, Sweden

Agreus, L. (author): Karolinska Institutet,Karolinska Institute,Karolinska Institute, Sweden

Andreasson, A. (author)

Mayer, E. (author)

Baines, J. F. (author): Max Planck Institute Evolutionary Biol, Germany; Christian Albrechts University of Kiel, Germany

Engstrand, L. (author): Karolinska Institutet,Karolinska Institute, Sweden

Portincasa, P. (author)

Bellini, M. (author): University of Pisa, Italy

Stanghellini, V. (author): St. Orsola-Malpighi University Hospital,University of Bologna, Italy

Barbara, G. (author): St. Orsola-Malpighi University Hospital,University of Bologna, Italy

Chang, L. (author): Jonsson Comprehensive Cancer Center,University of Calif Los Angeles, CA USA

Camilleri, M. (author): Mayo Clinic Minnesota,Mayo Clin, MN USA

Franke, A. (author): Christian Albrechts University of Kiel, Germany

Naim, H. Y. (author): University of Veterinary Medicine Hannover,University of Vet Medical Hannover, Germany

D'Amato, M. (author)

Heinsen, Femke Anouska (author): Christian Albrechts University of Kiel, Germany

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(creator_code:org_t)

2016-11-21
2018
English.
In: Gut. - : BMJ. - 0017-5749 .- 1468-3288. ; 67:2, s. 263-270

Related links:: https://gut.bmj.com/...; show more...; https://doi.org/10.1...; https://umu.diva-por... (primary) (Raw object); http://dx.doi.org/10... (free); https://gup.ub.gu.se...; https://doi.org/10.1...; https://urn.kb.se/re...; https://urn.kb.se/re...; https://lup.lub.lu.s...; http://kipublication...; https://urn.kb.se/re...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Objective IBS is a common gut disorder of uncertain pathogenesis. Among other factors, genetics and certain foods are proposed to contribute. Congenital sucraseisomaltase 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Gastroenterologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Gastroenterology and Hepatology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)

Keyword

controlled-trial
syndrome ibs
deficiency
population
symptoms
diarrhea
identification
constipation
polymorphism
microbiota
Gastroenterology & Hepatology

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ref (subject category)
art (subject category)

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Gastroenterology ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

Articles in the publication: Gut

By the university: University of Gothenburg; Umeå University; Stockholm University; Lund University; Karolinska Institutet; Linköping University

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