Dr. Javier Santos, researcher of the Physiology and Pathophysiology of the Digestive Tract group at Vall d’Hebron Institute of Research (VHIR), has published in Nature Reviews a compilation about the genetic and epigenetic factors in irritable bowel syndrome. The article is also signed by researchers of the GENIEUR European consortium, whose aim is to identify the genetic factors contributing to the causes of this syndrome.

The goal of the article was to review all the studies that have been conducted in the past 7 years in the field of the irritable bowel syndrome. This condition affects up to 20% of the western population and there are no biological biomarkers available for the diagnosis. “Despite the advances on research, we still have to diagnose patients for their symptoms”, explains Dr. Santos. Characteristic symptoms include chronic abdominal discomfort, pain and altered defecation patterns. However, its detection is difficult because many patients use to present other comorbidities such as anxiety, depression, migraine, fibromyalgia and chronic fatigue syndrome.

The latest epigenetic studies revealed the influence of neuronal pathways and impairment of intestinal barrier function in the pathogenesis of irritable bowel syndrome. Nevertheless, the connection between the brain and the gut, and the manner in which these genetic and epigenetic alterations take place, remains unclear.

Looking forward, GENIEUR researchers report that progress in the field essentially depends on large sample sizes of deeply phenotyped people for whom not only epigenetic, but also environmental data are available. For that reason, they have laid the basis for the creation of a European biobank in irritable bowel syndrome samples that will take into account all these factors. Dr. Santos assures that his team will share with the biobank over 400 samples from patients from Vall d’Hebron University Hospital. With these samples he expects to advance in the research of biomarkers for irritable bowel syndrome, especially regarding microRNAs.

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