Evidence map›Paper›PMID 41558814›Full record

SynthesisGut2026

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

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 and 7 more

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Gut, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Cristian Díaz-MuñozGastrointestinal Genetics Lab, CIC bioGUNE - BRTA, Derio, Spain.ORCID http://orcid.org/0000-0002-1593-2885
Isotta BozzarelliDepartment of Medicine and Surgery, LUM University, Casamassima, Italy.
Esteban Alexander Lopera-MayaDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Lazaros BelbasisNuffield Department of Population Health, University of Oxford, Oxford, UK.
Valeria Lo FaroDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Leticia Camargo TavaresHypertension Research Laboratory, Victorian Heart Institute and Department of Pharmacology, Biomedical Discovery Institute, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Victoria, Australia.
Francisco Heredia-FernándezGastrointestinal Genetics Lab, CIC bioGUNE - BRTA, Derio, Spain.
Biagio Di LorenzoDepartment of Medicine and Surgery, LUM University, Casamassima, Italy.
Trishla SinhaDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Cristina Esteban BlancoGastrointestinal Genetics Lab, CIC bioGUNE - BRTA, Derio, Spain.
Marie-Julie FavéCenter for Structural and Functional Genomics, Biology Department, Concordia University, Montreal, Québec, Canada.
Philip AwadallaCenter for Structural and Functional Genomics, Biology Department, Concordia University, Montreal, Québec, Canada.
Robin G WaltersNuffield Department of Population Health, University of Oxford, Oxford, UK.
Ferdinando BonfiglioDepartment of Molecular Medicine Medical Biotechnology, University of Naples Federico II, Naples, Italy.
Alexandra ZhernakovaDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Serena SannaDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.
Mauro D'AmatoGastrointestinal Genetics Lab, CIC bioGUNE - BRTA, Derio, Spain damato@lum.it.ORCID http://orcid.org/0000-0003-2743-5197

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGenetic studies of stool frequency (SF), an indirect proxy for gastrointestinal transit, may reveal therapeutically tractable pathways relevant to IBS and other dysmotility disorders.

objectiveTo identify genes and mechanisms involved in gut motility, providing a foundation for clinical translation.

designWe 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).

resultsSF heritability was comparable in Europeans (7.0%) and East Asians (5.6%). We observed strong genetic correlations with gastrointestinal and psychiatric disorders (r

conclusionsWe identify therapeutically tractable mechanisms involved in the control of gut motility, including a previously unrecognised role for vitamin B1. These findings warrant mechanistic and clinical studies to evaluate their translational potential in IBS and other dysmotility syndromes.

Indexed as

Gastrointestinal MotilityThiamineEast Asian PeopleEuropean PeopleFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIrritable Bowel SyndromeMalePolymorphism, Single NucleotideWhite PeopleThiamineGASTROINTESTINAL MOTILITYGENETICSIRRITABLE BOWEL SYNDROME

Identifiers

PMID41558814
PMCPMC13479210

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.