Cited by 23Gastrointestinal motility and disordersGut microbiota and healthDigestive system and related health

Sucrase-isomaltase 15Phe IBS risk variant in relation to dietary carbohydrates and faecal microbiota composition

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Thingholm, Louise, Rühlemann, Malte, Wang, Jun, Hübenthal, Matthias, Lieb, Wolfgang, Laudes, Matthias, Franke, Andre, D’Amato, Mauro·2019·Gut

Abstract

Recently in Gut , a coding sucrase-isomaltase ( SI ) variant (15Phe at single nucleotide polymorphism rs9290264) with 35% reduced disaccharidase activity was reported to increase IBS risk and to correlate with more frequent stools. These observations were not assessed in relation to key dietary factors including carbohydrate (ie, SI substrates) consumption.1 Here, we studied two large German population-based cross-sectional cohorts, namely PopGen (n=639; average age 61.4; 44.8% female) and FoCus (n=759; average age 53.0; 58.5% female), with available genotype (genome-wide arrays), dietary (12-month food frequency questionnaire, FFQ), faecal microbiota (16S sequencing) and IBS status (self-reported from questionnaire) data, as previously described in detail.2–4 In a combined age/sex/body mass index (BMI)-adjusted logistic regression analysis of the two data sets, carriers of the 15Phe variant (52.86%) reported IBS significantly more often than non-carriers (3.69% vs 1.84%, respectively; P=0.044, OR=2.04), thus replicating and extending previous findings.1 When taking into account the consumption of SI substrate carbohydrates (polysaccharides and disaccharides; g/day) estimated from FFQ, this association appeared strongest for individuals with lowest intake (not shown). In particular, as illustrated in figure 1, starch was the individual carbohydrate component where the largest difference in IBS prevalence …

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  • Although some studies demonstrate that patients with IBS have a different gastrointestinal microbiome compared with healthy controls, the role of the microbiota is still questioned, particularly because what constitutes a 'healthy' microbiome remains unclear.

    “Although some studies demonstrate that patients with IBS have a different gastrointestinal microbiome, compared with healthy controls, 40,41 the role of the microbiota is still questioned, particularly because what constitutes a 'healthy' microbiome remains unclear.”

    From Irritable bowel syndrome (2020) · cites this paper as [41]

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  1. [1]Henström M, Diekmann L, Bonfiglio F, et al Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome. Gut 2018; 67: 263– 70. 10.1136/gutjnl-2016-312456 27872184 PMC5563477 · DOI · Paper page
  2. [2]Krawczak M, Nikolaus S, von Eberstein H, et al PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships. Community Genet 2006; 9: 55– 61. 10.1159/000090694 16490960 · DOI
  3. [3]Müller N, Schulte DM, Türk K, et al IL-6 blockade by monoclonal antibodies inhibits apolipoprotein (a) expression and lipoprotein (a) synthesis in humans. J Lipid Res 2015; 56: 1034– 42. 10.1194/jlr.P052209 25713100 PMC4409280 · DOI
  4. [4]Wang J, Thingholm LB, Skiecevičienė J, et al Genome-wide association analysis identifies variation in vitamin D receptor and other host factors influencing the gut microbiota. Nat Genet 2016; 48: 1396– 406. 10.1038/ng.3695 27723756 PMC5626933 · DOI · Paper page
  5. [6]Vieira-Silva S, Falony G, Darzi Y, et al Species-function relationships shape ecological properties of the human gut microbiome. Nat Microbiol 2016; 1: 16088 10.1038/nmicrobiol.2016.88 27573110 · DOI
  6. [7]Labus JS, Hollister EB, Jacobs J, et al Differences in gut microbial composition correlate with regional brain volumes in irritable bowel syndrome. Microbiome 2017; 5: 49 10.1186/s40168-017-0260-z 28457228 PMC5410709 · DOI · Paper page
  7. [8]Rajilić-Stojanović M, Biagi E, Heilig HG, et al Global and deep molecular analysis of microbiota signatures in fecal samples from patients with irritable bowel syndrome. Gastroenterology 2011; 141: 1792– 801. 10.1053/j.gastro.2011.07.043 21820992 · DOI · Paper page
  8. [9]Rajilić-Stojanović M, Jonkers DM, Salonen A, et al Intestinal microbiota and diet in IBS: causes, consequences, or epiphenomena? Am J Gastroenterol 2015; 110: 278– 87. 10.1038/ajg.2014.427 25623659 PMC4317767 · DOI · Paper page

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Authors
Thingholm, L., Rühlemann, M., Wang, J., Hübenthal, M., Lieb, W., Laudes, M., Franke, A., & D’Amato, M.
Affiliations
  • Christian-Albrechts-Universität zu Kiel (DE)
  • Chinese Academy of Sciences (CN)
  • University Hospital Schleswig-Holstein (DE)
  • Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany
  • Ikerbasque (ES)
Corresponding author
D’Amato, Mauro
Venue
Gut
Publisher
BMJ
Published
2018-01-13
Volume
68
Issue
1
Pages
177-178
ISSN
  • 0017-5749 (ISSN-L)
  • 1468-3288
OpenAlex
W2783556576
Cited by
23
References
1
Citations by year
2026: 3 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 4 · 2021: 3 · 2020: 2 · 2019: 3 · 2018: 1
FWCI
2.14
Type
journal article
Language
en
Open access
Licence
cc-by-nc
Locations
  • Gut (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • HighWire Press Open Archive (submittedVersion)
Funders
  • Deutsche Forschungsgemeinschaft
  • Bundesministerium für Bildung und Forschung
  • Vetenskapsrådet
Topics
  • Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gut microbiota and health
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Digestive system and related health
Keywords
sucrase-isomaltase, irritable bowel syndrome, disaccharidase deficiency, dietary carbohydrates, starch intake, fecal microbiota, gut microbiota, genetic susceptibility, food frequency questionnaire
MeSH terms
Cross-Sectional Studies, Dietary Carbohydrates, Feces, Female, Genotype, Germany, Humans, Male, Middle Aged, Surveys and Questionnaires, Risk Factors, Sucrase-Isomaltase Complex, Polymorphism, Single Nucleotide, Irritable Bowel Syndrome

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