Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility - Scorecard - MDSpire
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Genetic Analysis of Stool Frequency Reveals Involvement of Vitamin B1 Metabolism and Other Targetable Pathways in Gut Motility Regulation

  • By

  • Cristian Díaz-Muñoz

  • Isotta Bozzarelli

  • Esteban Alexander Lopera-Maya

  • Lazaros Belbasis

  • Valeria Lo Faro

  • Leticia Camargo Tavares

  • Francisco Heredia-Fernández

  • Biagio Di Lorenzo

  • Trishla Sinha

  • Cristina Esteban Blanco

  • Marie-Julie Favé

  • Philip Awadalla

  • Robin G Walters

  • Ferdinando Bonfiglio

  • Alexandra Zhernakova

  • Serena Sanna

  • Mauro D’Amato

  • August 1, 2026

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Clinical Scorecard: Genetic Analysis of Stool Frequency Reveals Involvement of Vitamin B1 Metabolism and Other Targetable Pathways in Gut Motility Regulation

At a Glance

CategoryDetail
ConditionGut Motility Regulation
Key MechanismsVitamin B1 metabolism, bile acid and cholinergic signalling
Target PopulationIndividuals with IBS and functional constipation
Care SettingPopulation-based biobank surveys

Key Highlights

  • Stool frequency is partially heritable and shares genetic architecture with gastrointestinal, psychiatric, and cardiovascular traits.
  • Causal inference analyses implicate actionable pathways affecting IBS.
  • Fine-mapping identified SLC35F3 and XPR1 as key loci related to vitamin B1 metabolism.
  • Dietary vitamin B1 intake is strongly associated with stool frequency.
  • Findings support the use of stool frequency as an endophenotype for genetic discovery in IBS.

Guideline-Based Recommendations

Diagnosis

  • Utilize stool frequency as a proxy for gut motility in IBS assessment.

Management

  • Consider targeting thiamine metabolism and other modifiable pathways for personalized interventions.

Monitoring & Follow-up

  • Monitor stool frequency as a measure of gut motility in clinical settings.

Risks

  • Alterations in gut motility can lead to IBS and other disorders of gut-brain interaction.

Patient & Prescribing Data

Individuals with IBS and functional constipation

Potential for personalized nutritional or pharmacological interventions targeting gut motility.

Clinical Best Practices

  • Incorporate genetic insights into the understanding of gut motility mechanisms.
  • Utilize endophenotypes like stool frequency for genetic studies in IBS.

Related Resources & Content

Original Source(s)

Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility

  • by Cristian Díaz-Muñoz, Isotta Bozzarelli, Esteban Alexander Lopera-Maya, Lazaros Belbasis, Valeria Lo Faro, Leticia Camargo Tavares, Francisco Heredia-Fernández, Biagio Di Lorenzo, Trishla Sinha, Cristina Esteban Blanco, Marie-Julie Favé, Philip Awadalla, Robin G Walters, Ferdinando Bonfiglio, Alexandra Zhernakova, Serena Sanna, Mauro D’Amato

  • August 1, 2026

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