Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility - Report - 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 Report: Genetic Analysis of Stool Frequency and Gut Motility

Overview

This study identifies genetic factors influencing stool frequency, a proxy for gut motility, revealing heritability and shared genetic architecture with various traits.

Background

Understanding gut motility is crucial as alterations are linked to conditions like irritable bowel syndrome (IBS). This study expands on previous research by utilizing a multiancestry genome-wide association study to explore the genetic determinants of stool frequency.

Data Highlights

CohortSample SizeStool Frequency (per day)
EUR167,9660.98 - 1.42
EAS100,6400.98 - 1.42

Key Findings

  • Stool frequency is partially heritable and shares genetic architecture with gastrointestinal, psychiatric, and cardiovascular traits.
  • Causal inference analyses indicate effects on IBS.
  • Fine-mapping identified SLC35F3 and XPR1 as key loci related to gut motility.
  • A strong association exists between dietary vitamin B1 intake and stool frequency in the general population.
  • The study supports the use of stool frequency as an endophenotype for genetic discovery in IBS.

Clinical Implications

Understanding these genetic factors can inform future research.

Conclusion

This study enhances the understanding of genetic determinants of gut motility.

Related Resources & Content

  1. Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility | Gut, 2026
  2. The Journal of Infectious Diseases — The Role of Nutrition in Clostridioides difficile Infections: A Comprehensive Review
  3. Journal of Gastroenterology — The Interplay of Diet, Microbiota, and Genetic Factors in Inflammatory Bowel Disease Development
  4. Journal of Crohn's and Colitis — Dynamics of Gut Microbiota After Fecal Microbiota Transplantation in Ulcerative Colitis: Success Linked to Control of Prevotellaceae
  5. The Journal of Infectious Diseases — The Role of Gut Microbiota and Butyrate in Distinguishing Clostridioides difficile Colonization from Infection in Pediatric Patients
  6. Disorders of Gut–Brain Interaction and the Rome V Process
  7. Pharmacological management of chronic idiopathic constipation
  8. Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility | Gut

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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