ArticleGut2018
Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Registry-linked trialOpen access · hybridAbstract readMulticenter Study
In one paragraph
Article in Gut, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05795049 (Genetic Carbohydrate Maldigestion as a Model to Study Food Hypersensitivity Mechanism and Guide Personalised Treatment Using a Non-invasive Multiparametric Test), which is not on this map. Cited by 73 papers.
0numbers the graph read from it
0cells of the map it votes in
73citing papers in PubMed
12.9field-weighted citation impact, top 1% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Carbohydrate Maldigestion as a Model to Study Food Hypersensitivity Mechanism and Guide Personalised Treatment Using a Non-invasive Multiparametric Test (Work Package 1)
Who cites it
73 citing papers in PubMed, 166 citations in OpenAlex.
- Dietary Modifications in IBS Leads to Reduced Symptoms, Weight, and Lipid Levels: Two Randomized Clinical Trials.Nutrients · 2025Trial
- Leptin and PAI-1 Levels Are Decreased After a Dietary Intervention in Patients with Irritable Bowel Syndrome.International journal of molecular sciences · 2025Trial
- A Starch- and Sucrose-Reduced Diet Has Similar Efficiency as Low FODMAP in IBS-A Randomized Non-Inferiority Study.Nutrients · 2024Trial
- Exploration of differential responses to FODMAPs and gluten in people with irritable bowel syndrome- a double-blind randomized cross-over challenge study.Metabolomics : Official journal of the Metabolomic Society · 2024Trial
- Trial
- Trial
- Fermentable oligo-, di-, monosaccharides, and polyols (FODMAPs), but not gluten, elicit modest symptoms of irritable bowel syndrome: a double-blind, placebo-controlled, randomized three-way crossover trial.The American journal of clinical nutrition · 2022Trial
- Trial
- Trial
- A Dietary Intervention with Reduction of Starch and Sucrose Leads to Reduced Gastrointestinal and Extra-Intestinal Symptoms in IBS Patients.Nutrients · 2019Trial
- Sucrase-Isomaltase Deficiency in Children with Functional Gastrointestinal Disorders.Journal of clinical medicine · 2026Article
- Nutritional Management of Irritable Bowel Syndrome.Nutrients · 2026Review
- Disaccharidase testing in adults: do we need new testing standards?Proceedings (Baylor University. Medical Center) · 2026Article
- Unraveling the Pathophysiology of Irritable Bowel Syndrome: Mechanisms and Insights.International journal of molecular sciences · 2025Review
- Article
- Little Patients Big Discoveries: Potential Pediatric to Adult Neurogastroenterology Translation.The American journal of gastroenterology · 2025Review
- [Dietary Therapy in Irritable Bowel Syndrome].The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi · 2025Review
- Irritable bowel syndrome remains a complex disorder of gut-brain interaction: Too many actors on stage.World journal of gastroenterology · 2025Article
- Adult-Onset Autoimmune Enteropathy Mimicking Disaccharidase Deficiency.Gastroenterology research · 2024Article
- Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
43 authors at 20 institutions in 5 countries.
Maria HenströmDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Lena DiekmannDepartment of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany.
Ferdinando BonfiglioDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Fatemeh HadizadehDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Eva-Maria KuechDepartment of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany.
Maren von Köckritz-BlickwedeDepartment of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany.
Louise B ThingholmInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Tenghao ZhengDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Ghazaleh AssadiDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Claudia DierksDepartment of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Martin HeineDepartment of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany.
Ute PhilippDepartment of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Ottmar DistlDepartment of Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Mary E MoneyInternal Medicine Department, University of Maryland School of Medicine, Baltimore, Maryland, USA.
Meriem BelheouaneMax Planck Institute for Evolutionary Biology, Plön, Germany.
Femke-Anouska HeinsenInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Joseph RafterDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.
Gerardo NardoneGastroenterology Unit, Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.
Rosario CuomoDiagnosis and Therapy of Digestive Motility Diseases, Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.
Paolo Usai-SattaS.C. Gastroenterologia, Azienda Ospedaliera G. Brotzu, Cagliari, Italy.
Francesca GaleazziGastroenterology Unit, Padova University-Hospital, Padova, Italy.
Matteo NeriDepartment of Medicine and Aging Sciences and CeSi, G. D'Annunzio University, Chieti, Italy.
Susanna WalterDivision of Neuro and Inflammation Science, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
Magnus SimrénDepartment of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Pontus KarlingDivision of Medicine, Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
Bodil OhlssonDivision of Internal Medicine, Department of Clinical Sciences, Skåne University Hospital, Malmö, Sweden.
Peter T SchmidtDepartment of Medicine, Karolinska Institutet, Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden.
Greger LindbergDepartment of Medicine, Karolinska Institutet, Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden.
Aldona DlugoszDepartment of Medicine, Karolinska Institutet, Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden.
Lars AgreusDivision for Family Medicine, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Huddinge, Stockholm, Sweden.
Anna AndreassonDivision for Family Medicine, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Huddinge, Stockholm, Sweden.
Emeran MayerDivision of Digestive Diseases, Oppenheimer Center for the Neurobiology of Stress, David Geffen School of Medicine, University of California, Los Angeles, USA.
John F BainesMax Planck Institute for Evolutionary Biology, Plön, Germany.
Lars EngstrandDepartment of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Piero PortincasaDepartment of Biomedical Sciences and Human Oncology, University of Bari 'Aldo Moro', Bari, Italy.
Massimo BelliniGastrointestinal Unit, Department of Gastroenterology, University of Pisa, Pisa, Italy.
Vincenzo StanghelliniDepartment of Medical and Surgical Sciences, University of Bologna, St. Orsola-Malpighi Hospital, Bologna, Italy.
Giovanni BarbaraDepartment of Medical and Surgical Sciences, University of Bologna, St. Orsola-Malpighi Hospital, Bologna, Italy.
Lin ChangDivision of Digestive Diseases, Oppenheimer Center for the Neurobiology of Stress, David Geffen School of Medicine, University of California, Los Angeles, USA.
Michael CamilleriClinical Enteric Neuroscience Translational and Epidemiological Research, Mayo Clinic, Rochester, Minnesota, USA.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
Hassan Y NaimDepartment of Physiological Chemistry, University of Veterinary Medicine Hannover, Hannover, Germany.
Mauro D'AmatoDepartment of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0003-2743-5197
Karolinska Institutet · SEUniversity of Veterinary Medicine Hannover, Foundation · DEChristian-Albrechts-Universität zu Kiel · DEKarolinska University Hospital · SEFederico II University Hospital · ITIRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola · ITUniversity of California, Los Angeles · USAzienda Ospedaliera G. Brotzu · ITIkerbasque · ESLinköping University · SELund University · SEMayo Clinic in Florida · USStockholm University · SEUmeå University · SEUniversity of Bari Aldo Moro · ITUniversity of Chieti-Pescara · ITUniversity of Maryland, Baltimore · USUniversity of North Carolina at Chapel Hill · USUniversity of Padua · ITUniversity of Pisa · IT
Funding
Xenograft and Isograft CoreP01DK033506 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI REINECKER, HANS-CHRISTIAN · 1986 to 2015
$24.2MPilot and Feasibility ProgramP30DK041301 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ROZENGURT, JUAN ENRIQUE · 1990 to 2019
$18.0MWomen's Health and Functional Visceral Disorders CenterP50DK064539 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MAYER, EMERAN A · 2002 to 2017
$17.5MPERCEPTION AND MODULATION OF VISCERAL SENSATIONSR01DK048351 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MAYER, EMERAN A · 1996 to 2019
$8.2MSUBSTANCE P AND INTESTINAL INFLAMMATIONR01DK047343 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI POTHOULAKIS, CHARALABOS · 1994 to 2014
$4.2MNIDDK NIH HHS P01 DK033506NIDDK NIH HHS P30 DK041301NIDDK NIH HHS P50 DK064539NIDDK NIH HHS R01 DK047343NIDDK NIH HHS R01 DK048351
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 (
designWe sequenced
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
conclusions
Indexed as
AdultAnimalsCarbohydrate Metabolism, Inborn ErrorsCase-Control StudiesCell LineCell MembraneDefecationDiarrheaDNA Mutational AnalysisExonsFecesFemaleGene DosageGenotypeHaplorhiniHumansSucrase-Isomaltase ComplexDIARRHOEAGENETICSIRRITABLE BOWEL SYNDROMEPOLYMORPHIC VARIATION
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
Read underepoch 390
Registered trials
NCT05795049ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.