Expressive

rs11240503 - CDK18

Magnitude 2.2 · 2 studies 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

  • GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome - Unknown journal (n.d.) · Unknown authors · PubMed 34957435

    ABSTRACT: Summary Gut dysmotility is associated with constipation, diarrhea, and functional gastrointestinal disorders like irritable bowel syndrome (IBS), although its molecular underpinnings are poorly characterized. We studied stool frequency (defined by the number of bowel movements per day, based on questionnaire data) as a proxy for gut motility in a GWAS meta-analysis including 167,875 individuals from UK Biobank and four smaller population-based cohorts. We identify 14 loci associated with stool frequency (p ≤ 5.0 × 10−8). Gene set and pathway analyses detected enrichment for genes involved in neurotransmitter/neuropeptide signaling and preferentially expressed in enteric motor neurons controlling peristalsis. PheWAS identified pleiotropic associations with dysmotility syndro

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