In a groundbreaking study analyzing data from over 268,000 individuals, researchers have identified that genes associated with thiamine (vitamin B1) metabolism significantly influence intestinal motility. This discovery paves the way for personalized treatments targeting conditions like constipation and irritable bowel syndrome (IBS).
Diaz Muñoz et al. identified key mechanisms involved in intestinal motility, including an overlooked role for vitamin B1. Image credit: Hillman et al., doi: 10.1264/jsme2.ME17017 / CC BY 4.0.
Gastrointestinal motility is crucial for food digestion, nutrient absorption, and waste elimination, all critical components of human health and well-being.
The regulation of motility depends on a multifaceted communication network, which encompasses the gut-brain axis, the immune system, gut microbiota, and is affected by external influences such as diet, physical activity, and medications.
Disruptions in motility control and peristalsis can lead to significant health issues, including IBS and chronic idiopathic intestinal pseudoobstruction, highlighting the importance of understanding these conditions.
In this recent study, Professor Mauro D’Amato from LUM University, CIC bioGUNE-BRTA, and Ikerbasque, along with his colleagues, employed a large-scale genetic approach to identify common DNA variations linked to intestinal motility.
The research utilized questionnaires and genetic data from 268,606 individuals of European and East Asian ancestry, applying computational analysis to pinpoint relevant genes and mechanisms.
The team discovered 21 genomic regions that affect defecation frequency, including 10 previously unknown regions, affirming the biologically plausible pathways involved in intestinal motility regulation.
For instance, they found significant correlations with bile acid regulation, which aids fat digestion and serves as signaling molecules in the intestines, along with neural signaling pathways crucial for intestinal muscle contractions (especially acetylcholine-related signaling).
However, the most striking outcome arose when the researchers pinpointed two high-priority genes focused on vitamin B1 biology, specifically those involved in the transport and activation of thiamine: SLC35F3 and XPR1.
To validate the relevance of the vitamin B1 signal, they further examined dietary data from the UK Biobank.
A study involving 98,449 participants revealed that increased dietary thiamine intake correlated with more frequent bowel movements.
Crucially, the relationship between thiamine consumption and bowel frequency exhibited variations based on genetic factors, specifically the combined genetic score of SLC35F3 and XPR1.
This suggests that genetic variations in thiamine metabolism may impact how vitamin B1 intake affects bowel habits in the general population.
“By utilizing genetic data, we’ve created a roadmap for the biological pathways influencing intestinal pace,” said Dr. Cristian Díaz Muñoz from CIC bioGUNE-BRTA.
“The data strongly highlights vitamin B1 metabolism alongside established mechanisms like bile acids and neural signaling.”
This research also confirms a significant biological link between bowel frequency and IBS, a widespread condition affecting millions globally.
“Issues with intestinal motility are at the core of irritable bowel syndrome, constipation, and other common motility disorders, yet the underlying biology remains challenging to decipher,” noted Professor D’Amato.
“These genetic findings point to specific pathways, particularly those involving vitamin B1, as vital areas for further research, including laboratory experiments and meticulously designed clinical trials.”
For more details, refer to the study published in the Journal on January 20, 2026.
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C. Diaz Muñoz et al. Genetic analysis of defecation frequency suggests a link to vitamin B1 metabolism and other pathways regulating intestinal motility. Intestine published online January 20, 2026. doi: 10.1136/gutjnl-2025-337059
Source: www.sci.news
