rs10832353 - CALCB

Magnitude 2.0 · 1 study on file

Reported associations

• Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the modulation of gut motility. - Gut (2026) · Díaz-Muñoz C, Bozzarelli I, Lopera-Maya EA, Belbasis L, Lo Faro V, Camargo Tavares L, Heredia-Fernández F, Di Lorenzo B, Sinha T, Esteban Blanco C, Favé MJ, Awadalla P, Walters RG, Bonfiglio F, Zhernakova A, Sanna S, D'Amato M · PubMed 41558814

  Genetic studies of stool frequency (SF), an indirect proxy for gastrointestinal transit, may reveal therapeutically tractable pathways relevant to IBS and other dysmotility disorders. To identify genes and mechanisms involved in gut motility, providing a foundation for clinical translation. We performed a multiancestry genome-wide association study (GWAS) meta-analysis of SF in 268 606 European and East Asian individuals. Heritability and genetic correlations with other traits were estimated, and Mendelian randomisation was used to test causal relationships. GWAS signals were fine-mapped and functionally annotated to prioritise candidate genes and pathways. Findings implicating thiamine metabolism were followed-up with dietary interaction analyses in UK Biobank (UKB). SF heritability was

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