Why some people more likely to have bowel diseases

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In a new study from CIC bioGUNE, researchers examined the DNA of more than 160,000 people who provided information on the frequency of their bowel movements.

They found genetic profiles and specific genes which influence bowel habits and susceptibility to irritable bowel syndrome, the most common gut disorder.

How often people move the bowels is important for wellbeing and reflects the correct functioning of the gastrointestinal (GI) tract in digesting and absorbing nutrients while excreting waste products of digestion and toxic substances.

Irregular bowel habits and altered gut motility, including constipation and diarrhea, are often observed in common gut conditions like irritable bowel syndrome (IBS), a disorder that affects up to 10% of the population worldwide.

In the study, the team found for the first time that the frequency of defecation is a heritable character in humans, and that specific genetic profiles influence bowel habits as well as predisposition to IBS.

They studied 167,875 individuals from population-based cohorts and correlated their genetic makeup with questionnaire data, mostly in relation to a simple query about the number of times one opens the bowels every day.

The team found 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.

Some of the genes reported in the study produce neurotransmitters, hormones and other molecules especially active in the brain and nerve cells involved in the control of intestinal peristalsis, and even targeted pharmaceutically to induce bowel movements in previous studies (like BDNF).

The team also reported evidence of a common genetic background for stool frequency and IBS, and that this information may be used to identify individuals at increased risk of disease.

This was more informative for IBS predominantly characterized by diarrhea.

Using data from UK Biobank, the team showed that people with higher polygenic scores were up to five times more likely to suffer from IBS-D than the rest of the population.

The team says the genetic information and the polygenic scores obtained in this study can be refined and eventually contribute to the classification of patients into different treatment groups.

Hopefully, they can lead to improved therapeutic precision when aiming to bring gut dysmotility and altered bowel habits back to normal.

If you care about bowel health, please read studies about this diet may reduce inflammation by boosting gut health, and findings of how gut bacteria may trigger colon cancer.

For more information about bowel diseases, please see recent studies about ultra-processed food linked to higher risk of common bowel diseases, and results showing that scientists develop a new way to treat common bowel diseases.

The study is published in Cell Genomics. One author of the study is Mauro D’Amato.

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