{
  "abstract": "A growing body of literature, including recent studies published in Gut,1 2 links hypomorphic (defective) variants in the sucrase-isomaltase gene (SI; coding for a brush border disaccharidase) not only to rare recessive forms of sucrose intolerance but also to increased risk of irritable bowel syndrome (IBS), its severity and the efficacy of carbohydrate-reducing diets.3–7 This provides rationale for personalizing therapeutic (dietary) approaches across a clinical continuum of genetic SI deficiencies (GSID) ranging from severe monogenic forms to complex (milder) IBS manifestations.8 While most hypomorphic SI alleles are rare, the Val15Phe variant (rs9290264) is common (allele frequency=0.30 in Europeans), shows 35% reduced activity and confers increased IBS risk.5 7 Moreover, Val15Phe appears to exert pharmacogenetic effects by modulating the hypoglycaemic efficacy of acarbose, an SI inhibitor used in the treatment of type 2 diabetes.9 Hence, the Val15Phe variant may influence the outcome of diagnostic tests relying on carbohydrate digestion (breath/sucrose challenge tests) and/or affect postingestive symptoms and metabolic responses. In the current pilot survey, we aimed to investigate whether Val15Phe contributes to modulating bowel symptoms and/or serum glucose concentrations following a sucrose challenge test (SCT, see online supplemental methods) in patients with IBS.SP110.1136/gutjnl-2025-336393.supp1Supplementary data",
  "authors": [
    {
      "affiliations": [
        "Gastrointestinal Genetics Lab, CIC bioGUNE - BRTA, Derio, Spain",
        "Department of Physiology, University of Basque Country, Biscay, Spain"
      ],
      "name": "Andreea Zamfir-Taranu"
    },
    {
      "affiliations": [
        "Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany"
      ],
      "name": "Britt-Sabina Löscher"
    },
    {
      "affiliations": [
        "Institute of Clinical Molecular Biology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany"
      ],
      "name": "Andre Franke"
    },
    {
      "affiliations": [
        "Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy",
        "CEINGE Advanced Biotechnology Franco Salvatore s. c. a r. l, Naples, Italy"
      ],
      "name": "Ferdinando Bonfiglio"
    },
    {
      "affiliations": [
        "Department of Internal Medicine, Skåne University Hospital Malmö, Malmö, Sweden",
        "Department of Clinical Sciences, Lund University, Lund, Sweden"
      ],
      "name": "Bodil Ohlsson"
    },
    {
      "affiliations": [
        "Gastrointestinal Genetics Lab, CIC bioGUNE - BRTA, Derio, Spain",
        "Ikerbasque, Basque Foundation for Science, Bilbao, Spain",
        "Department of Medicine and Surgery, LUM University, Casamassima, Italy"
      ],
      "name": "Mauro D’Amato"
    }
  ],
  "title": "Sucrase-isomaltase hypomorphic variant Val15Phe affects the response to a sucrose challenge test in patients with IBS",
  "uid": "5a5f9e6b-6ed2-5b93-8a4c-d312ef2efce4"
}