ArticlePloS one2020
Hypomorphic SI genetic variants are associated with childhood chronic loose stools.
Article in PloS one, 2020. 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 6 papers.
What it found
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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
6 citing papers in PubMed, 11 citations in OpenAlex.
- Urinary Uremic Toxin Signatures and the Metabolic Index of Gut Dysfunction (MIGD) in Autism Spectrum Disorder: A Stool-Phenotype-Stratified Analysis.International journal of molecular sciences · 2025Article
- Little Patients Big Discoveries: Potential Pediatric to Adult Neurogastroenterology Translation.The American journal of gastroenterology · 2025Review
- Prevalence of functional diarrhea in children and adolescents.Neurogastroenterology and motility · 2025Article
- Genetics of irritable bowel syndrome: shifting gear via biobank-scale studies.Nature reviews. Gastroenterology & hepatology · 2022Review
- Application of The FODMAP Diet in a Paediatric Setting.Nutrients · 2022Review
- Article
Corrections and comments
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Authors and funding
19 authors at 16 institutions in 2 countries.
Funding
Abstract
objectiveThe SI gene encodes the sucrase-isomaltase enzyme, a disaccharidase expressed in the intestinal brush border. Hypomorphic SI variants cause recessive congenital sucrase-isomaltase deficiency (CSID) and related gastrointestinal (GI) symptoms. Among children presenting with chronic, idiopathic loose stools, we assessed the prevalence of CSID-associated SI variants relative to the general population and the relative GI symptom burden associated with SI genotype within the study population.
methodsA prospective study conducted at 18 centers enrolled 308 non-Hispanic white children ≤18 years old who were experiencing chronic, idiopathic, loose stools at least once per week for >4 weeks. Data on demographics, GI symptoms, and genotyping for 37 SI hypomorphic variants were collected. Race/ethnicity-matched SI data from the Exome Aggregation Consortium (ExAC) database was used as the general population reference.
resultsCompared with the general population, the cumulative prevalence of hypomorphic SI variants was significantly higher in the study population (4.5% vs. 1.3%, P < .01; OR = 3.5 [95% CI: 6.1, 2.0]). Within the study population, children with a hypomorphic SI variant had a more severe GI symptom burden than those without, including: more frequent episodes of loose stools (P < .01), higher overall stool frequency (P < .01), looser stool form (P = .01) and increased flatulence (P = .02).
conclusionNon-Hispanic white children with chronic idiopathic loose stools have a higher prevalence of CSID-associated hypomorphic SI variants than the general population. The GI symptom burden was greater among the study subjects with a hypomorphic SI variant than those without hypomorphic SI variants.
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