Published: 2021-12-09 18:08 | Updated: 2021-12-09 18:08

Bowel habits written in the DNA

A large study by an international team of researchers including from Karolinska Institutet has demonstrated that the frequency of defecation is a heritable trait in humans, and that specific genetic profiles influence bowel habits and predisposition to irritable bowel syndrome. The findings are published in the journal Cell Genomics.

How often people move the bowels is important for wellbeing, and reflects correct functioning of the gastrointestinal (GI) tract. Irregular bowel habits and altered gut motility, including constipation and diarrhoea, are often observed in common gastrointestinal conditions like irritable bowel syndrome (IBS), a disorder that affects up to 10 percent of the population worldwide.

Now, an international team of researchers, led by Mauro D’Amato, Guest Professor at the Department of Medicine, Solna, Karolinska Institutet, and Ikerbasque Research Professor at CIC bioGUNE in Spain, have uncovered some genetic explanations for human bowel habits.

The researchers studied the DNA of more than 160,000 people who provided information on the frequency of their bowel movements. They discovered that, among people with higher (or lower) stool frequency, specific DNA changes were more common than in the rest of the population. These changes, found in 14 regions of the human genome, involved several genes that were studied more in detail. The team also reported evidence of a common genetic background for stool frequency and IBS, information that may be used to identify individuals at increased risk of disease.

“These results are very exciting and warrant follow-up studies: once more stool frequency genes are unequivocally identified, we may have a battery of new drug targets to be exploited for the treatment of constipation, diarrhoea and common dysmotility syndromes like IBS” explains corresponding author Mauro D’Amato.

This news article is based on a press release from CIC bioGune.