One in ten people suffer from irritable bowel syndrome (IBS), globally, but therapeutic options are few and generally limited in their efficacy because of the unknown etiology. A new study, published in the journal Cellular and Molecular Gastroenterology and Hepatology, has revealed that some of the biological mechanisms causing IBS may be in common with cardiovascular diseases (CVD).

An international research team, coordinated by Professor Mauro D’Amato from the Gastrointestinal Genetics Research group at CIC bioGUNE – member of BRTA - and LUM University, and including scientists from Monash University (Australia), IRGB-CNR, CEINGE and University of Naples Federico II (Italy), and the University of Groningen (Netherlands), have now identified DNA changes found in the general population that associate with increased risk of IBS defined according to expert consensus criteria from the Rome Foundation.

IBS is among the most common gastrointestinal disorders worldwide, affecting up to 10% of people (women more than men) with a complex variety of symptoms that include abdominal pain, bloating, diarrhea and constipation, thus significantly reducing patients’ quality of life. The causes of IBS are not well understood, which results in a limited array of treatment options, often only working in some but not all patients. Familiarity and genetic predisposition to IBS are known, but the exact nature of the genes and biological mechanisms involved have remained mostly elusive.

The researchers studied 24,735 people with IBS and 77,149 symptom-free individuals from two large European population-based cohorts (UK Biobank and Lifelines), and compared their DNA profiles across the entire human genome. They identified four genomic regions, including two not previously reported, where certain DNA changes are more common in people with IBS. The results, published in Cellular and Molecular Gastroenterology and Hepatology, altogether implicate genes involved in important physiological processes such as the control of gastrointestinal motility, the integrity of the intestinal mucosa, and the circadian rhythm. “Although we cannot conclusively point to individual genes and specific mechanisms yet”, says lead and corresponding author Dr. Leticia Camargo Tavares, Postdoctoral Fellow at the Hypertension Research Laboratory from the School of Biological Sciences at Monash University, “these findings offer novel insight into the pathophysiology of IBS and highlight potential therapeutic targets, so we expect follow-up research to build on these discoveries”.

The team also analysed similarities between the genetics predisposing to IBS and that of other common diseases: in addition to the known overlap with mood and anxiety disorders as in previous studies, they identified a novel link to various conditions and diseases of the cardiovascular system including hypertension, ischemic (coronary) heart disease and angina pectoris. “I find this the most exciting outcome of our study” comments senior author and study supervisor Ikerbasque Research Professor Mauro D’Amato, “the realization that the genetic make-up underlying IBS similarly contributes to CVD tells us that some drugs and therapeutic approaches used to treat either condition may in fact find their applicability to treat both”.

Important by-product of their research, the study also showed that IBS heritability (the weight of genetics in determining one’s risk of disease) is much stronger than previously recognized. This may be due to the fact that they focused on more standardised and structured classifications of IBS patients and their symptoms according to the Rome Criteria, the authors explain.

UK Biobank: UK Biobank is a large-scale biomedical database and research resource containing anonymised genetic, lifestyle and health information from half a million UK participants. UK Biobank’s database, which includes blood samples, heart and brain scans and genetic data of the volunteer participants, is globally accessible to approved researchers who are undertaking health-related research that’s in the public interest. UK Biobank’s resource was opened for research use in April 2012. Since then, 30,000 researchers from 100 countries have been approved to use it and more than 6,000 peer-reviewed papers that used the resource have now been published.

Lifelines: Lifelines is a large, multigenerational cohort study that includes over 167,000 participants (10%) from the northern population of the Netherlands. We included participants from three generations, who are followed with a lifespan perspective, to obtain insight into healthy ageing. The aim of Lifelines is to be a resource for the national and international scientific community. To facilitare research we collect data and biosamples, using questionnaires, physical measurements and sampling, since 2006. Every 1.5 years participants complete a questionnaire and once every 5 years participants visit a Lifelines location where biosamples are collected and several measurements and tests are conducted.

Reference: Leticia Camargo Tavares, Esteban Alexander Lopera-Maya, Ferdinando Bonfiglio, Tenghao Zheng, Trishla Sinha, Francine Zanchetta Marques, Alexandra Zhernakova, Serena Sanna, Mauro D’Amato. Cellular and Molecular Gastroenterology and Hepatology. DOI: 10.1016/j.jcmgh.2024.04.002.

About CIC bioGUNE

The Centre for Cooperative Research in Biosciences (CIC bioGUNE), member of the Basque Research & Technology Alliance (BRTA), located in the Bizkaia Technology Park, is a biomedical research organisation conducting cutting-edge research at the interface between structural, molecular and cell biology, with a particular focus on generating knowledge on the molecular bases of disease, for use in the development of new diagnostic methods and advanced therapies.

About Ikerbasque

Ikerbasque - Basque Foundation for Science - is the result of an initiative of the Department of Education of the Basque Government that aims to reinforce the commitment to scientific research by attracting, recovering and consolidating excellent researchers from all over the world. Currently, it is a consolidated organization that has 290 researchers/s, who develop their work in all fields of knowledge.

About BRTA

BRTA is an alliance of 4 collaborative research centres (CIC bioGUNE, CIC nanoGUNE, CIC biomaGUNE y CIC energiGUNE) and 13 technology centres (Azterlan, Azti, Ceit, Cidetec, Gaiker, Ideko, Ikerlan, Leartiker, Lortek, Neiker, Tecnalia, Tekniker y Vicomtech) with the main objective of developing advanced technological solutions for the Basque corporate fabric.

With the support of the Basque Government, the SPRI Group and the Provincial Councils of the three territories, the alliance seeks to promote collaboration between the research centres, strengthen the conditions to generate and transfer knowledge to companies, contributing to their competitiveness and outspreading the Basque scientific-technological capacity abroad.

BRTA has a workforce of 3,500 professionals, executes 22% of the Basque Country's R&D investment, registers an annual turnover of more than 300 million euros and generates 100 European and international patents per year.

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