Increased Prevalence of Rare Sucrase-isomaltase Pathogenic Variants in Irritable Bowel Syndrome Patients
Open accessAbstract
Patients with irritable bowel syndrome (IBS) often associate their symptoms to certain foods. In congenital sucrase-isomaltase deficiency (CSID), recessive mutations in the SI gene (coding for the disaccharidase digesting sucrose and 60% of dietary starch)1 cause clinical features of IBS through colonic accumulation of undigested carbohydrates, triggering bowel symptoms.2 Hence, in a previous study,3 we hypothesized that CSID variants reducing SI enzymatic activity may contribute to development of IBS symptoms. We detected association with increased risk of IBS for 4 rare loss-of-function variants typically found in (homozygous) CSID patients, because carriers (heterozygous) of these rare variants were more common in patients than in controls.1,4 Through a 2-step computational and experimental strategy, the present study aimed to determine whether other (dys-)functional SI variants are associated with risk of IBS in addition to known CSID mutations. We first aimed to identify all SI rare pathogenic variants (SI-RPVs) on the basis of integrated Mendelian Clinically Applicable Pathogenicity (M-CAP) and Combined Annotation Dependent Depletion (CADD) predictive (clinically relevant) scores; next, we inspected genotype data currently available for 2207 IBS patients from a large ongoing project to compare SI-RPV case frequencies with ethnically matched population frequencies from the Exome Aggregation Consortium (ExAC).
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A systematic review demonstrated few consistent findings in IBS and certainly no microbiome signature differentiating IBS subgroups.
“A systematic review demonstrated few consistent findings in IBS (possibly because age, sex, race, diet, and antibiotic intake were not controlled for in included studies), and certainly no microbiome signature differentiating IBS subgroups. 42”
From Irritable bowel syndrome (2020) · cites this paper as [42]
The Methods and Results describe an analysis of sucrase-isomaltase genetic variants in IBS patients, not a systematic review of microbiome studies. Searches for a microbiome signature, IBS subgroups, and the proposed study confounders found no passage addressing the attributed claim. (LLM, conf=0.77)
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Gaus, O. V., Livzan, M. A., & Александровна, Г. Д. (2024) · Terapevticheskii arkhiv · doi:10.26442/00403660.2024.02.202597 · Cited by 1 · see citing works
Dietary Therapy in Irritable Bowel Syndrome
Kang, S. J., & the Korean Society of Neurogastroenterology and Motility (2025) · Korean Journal of Gastroenterology · doi:10.4166/kjg.2025.009 · Cited by 1 · see citing works
Carbohydrate Digestion and Absorption, and Malabsorption
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Sucraid (sacrosidase) is the only treatment for CSID: should there be a better option?
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- Authors
- Garcia-Etxebarria, K., Zheng, T., Bonfiglio, F., Bujanda, L., Dlugosz, A., Lindberg, G., Schmidt, P. T., Karling, P., Ohlsson, B., Simren, M., Walter, S., Nardone, G., Cuomo, R., Usai-Satta, P., Galeazzi, F., Neri, M., Portincasa, P., Bellini, M., Barbara, G., Jonkers, D., Eswaran, S., Chey, W. D., Kashyap, P., Chang, L., Mayer, E. A., Wouters, M. M., Boeckxstaens, G., Camilleri, M., Franke, A., & D’Amato, M.
- Affiliations
- Karolinska Institutet (SE)
- Karolinska University Hospital (SE)
- University of the Basque Country (ES)
- Umeå University (SE)
- Lund University (SE)
- Linköping University (SE)
- Federico II University Hospital (IT)
- University of Padua (IT)
- University of Chieti-Pescara (IT)
- University of Bari Aldo Moro (IT)
- University of Pisa (IT)
- IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
- Maastricht University Medical Centre (NL)
- University of Michigan (US)
- Mayo Clinic (US)
- University of California, Los Angeles (US)
- KU Leuven (BE)
- Ikerbasque (ES)
- Corresponding author
- D’Amato, Mauro
- ORCID
- Zheng, Tenghao
- Bonfiglio, Ferdinando
- Dlugosz, Aldona
- Lindberg, Greger
- Schmidt, Peter T.
- Karling, Pontus
- Ohlsson, Bodil
- Walter, Susanna
- Nardone, Gerardo
- Cuomo, Rosario
- Galeazzi, Francesca
- Neri, Matteo
- Portincasa, Piero
- Bellini, Massimo
- Barbara, Giovanni
- Jonkers, Daisy
- Eswaran, Shanti
- Chey, William D.
- Kashyap, Purna
- Chang, Lin
- Mayer, Emeran A.
- Wouters, Mira M.
- Boeckxstaens, Guy
- Camilleri, Michael
- D’Amato, Mauro
- Venue
- Clinical Gastroenterology and Hepatology
- Publisher
- Elsevier BV
- Published
- 2018-10
- Volume
- 16
- Issue
- 10
- Pages
- 1673-1676
- ISSN
- 1542-3565 (ISSN-L)
- PMC
- PMC6103908
- OpenAlex
- W2785706387
- Cited by
- 96
- References
- 8
- Citations by year
- 2026: 9 · 2025: 12 · 2024: 14 · 2023: 9 · 2022: 12 · 2021: 15 · 2020: 14 · 2019: 9 · 2018: 2
- FWCI
- 9.52
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Clinical Gastroenterology and Hepatology (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion, cc-by-nc-nd)
- Lirias (submittedVersion, cc-by-nc-nd)
- DiVA (Linkoping University) (submittedVersion, other-oa)
- KTH Publication Database DiVA (KTH Royal Institute of Technology) (submittedVersion, other-oa)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion, cc-by-nc-nd)
- Research Publications (Maastricht University) (submittedVersion, cc-by-nc-nd)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
- Lund University Publications (Lund University) (submittedVersion)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion, other-oa)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Funders
- Swedish Research Council
- Health Department of the Basque Government (2015111133)
- Spanish Ministry of Economy and Competitiveness (FIS PI17/00308)
- Topics
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Digestive system and related health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- irritable bowel syndrome, sucrase-isomaltase deficiency, rare pathogenic variants, loss-of-function mutations, genetic risk, heterozygous carriers, CADD score, ExAC
- MeSH terms
- Gene Frequency, Genotype, Humans, Sucrase-Isomaltase Complex, Prevalence, Irritable Bowel Syndrome
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