A new collaborative international genetic study led by Prof. Mauro D’Amato from the CIC bioGUNE in Spain and LUM University in Italy, with contributions from the research group of Dr. Serena Sanna at CNR‑IRGB, has identified genetic factors that influence bowel movement frequency.
The study was Published in Gut, the research analysed data from more than 268,000 individuals of European and East Asian ancestry and uncovered 21 genomic regions linked to intestinal motility, including 10 previously unknown.
The findings highlight biological pathways already implicated in gut movement, such as bile‑acid regulation and nerve signalling, but also point to an unexpected role for vitamin B1 (thiamine) metabolism. Follow‑up analyses in nearly 100,000 UK Biobank participants showed that higher dietary thiamine intake is associated with more frequent bowel movements, with effects varying according to individuals’ genetic profiles at two vitamin‑related genes.
These results provide new insight into the genetic and nutritional factors that shape bowel habits and open avenues for future research on vitamin B1 biology in gut health.
The study also supports a meaningful biological overlap between bowel movement
frequency and IBS, a common condition affecting millions worldwide. Gut motility problems
in fact are at the heart of IBS, constipation and other common gut-motility disorders, but the underlying biology is very hard to pin down. These genetic results highlight specific pathways, especially vitamin B1, as testable leads for the next stage of research, including lab experiments and carefully designed clinical studies.”
The research was supported by grants from MCIU/AEI/10.13039/501100011033 and ERDF/EU
(PID2023-148957OB-I00); PRIN2022/NextGenerationEU (2022PMZKEC; CUP
E53D23004910008 and CUP B53D23008300006); ERC Starting Grant (101075624);
PNRR/NextGenerationEU (PE00000015/Age-it); NWO-VICI (VI.C.232.074); NWO Gravitation
ExposomeNL (024.004.017); EU Horizon DarkMatter program (101136582).
LINK to more extended press release: https://www.eurekalert.org/news-releases/1112772
LINK to original article: Díaz-Muñoz C, Bozzarelli I, Lopera-Maya EA, et al. Genetic dissection of stool frequency implicates vitamin B1 metabolism and other actionable pathways in the
modulation of gut motility. Gut. DOI: 10.1136/gutjnl-2025-337059.
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