Crohn’s disease: study points to previously unknown route of origin
Crohn’s disease is a chronic inflammatory bowel disease, which affects hundreds of thousands of people in Germany alone. The exact causes of the disease are still not clearly understood. However, some factors, such as genetics, are known to have a significant influence on the development of the disease. Researchers now have ten new risk genes found in Crohn’s disease.
Ten new risk genes for Crohn’s disease have been discovered in an international study. In addition, the paper indicates a previously unknown pathway for the onset of chronic inflammatory bowel disease. The results of a study involving Cluster of Excellence Precision Medicine in Chronic Inflammation (PMI) are published in the journal “Genetics of nature” came out.
Genes not seen in previous studies
According to Message The international consortium Cluster of Excellence PMI compared DNA samples from approximately 30,000 people with Crohn’s disease and 80,000 people from the control group without this disease to detect abnormalities in the genome of patients with this intestinal disease.
The aim of the researchers was Gene variants be found that make people susceptible to inflammatory bowel disease (IBD). The research method was the so-called exome sequencing, in which all sections of the genome encoding proteins are sequenced.
So far, mostly in genome-wide association studies looking for abnormalities in the patients’ genome.
“In the new study, we identified genetic variants in ten genes that susceptibility elevation in Crohn’s disease. It identified changes in six genes in areas not previously associated with Crohn’s disease.”explains Professor André Franke of the PMI Cluster of Excellence, who participated in the study with his working group.
“These genes, which have not yet been seen in previous genome studies, will create new ones. Approaches to methods of therapy result”said PMI spokesman Prof. Stefan Schreiber, director of the Internal Medicine Clinic I at Schleswig-Holstein University Hospital (UKSH), Kiel Campus and director of the Institute for Clinical Molecular Biology (IKMB) at the Christian-Albrecht University in Kiel. (CAU) and UKSH, Campus Kiel.
Limited quality of life
Crohn’s disease is one of the quality of life a limiting disease characterized by recurrent, chronic inflammation of the gastrointestinal tract. The causes of the disease are still not well understood.
They are believed to be due to excess immune reaction occurs in genetically predisposed individuals. Although there are drugs that relieve symptoms in many patients, there is no cure, and severe flare-ups are common.
More than 200 genome regions associated with Crohn’s disease identified
Previous Genome-Wide Association Studies (GWAS) more than 200 regions genome associated with Crohn’s disease. However, these studies are limited to the search for specific, previously known variants.
“Moreover, these studies usually detect changes that are not in the protein-coding region. It does harderidentify affected genes”, says co-author Dr. Britt-Sabine Lescher, postdoctoral fellow at Franke’s working group at IKMB.
To complement GWAS, it is better to define biological targets and Identification Therefore, a large-scale study was conducted under the leadership of working groups from the Broad Institute at the Massachusetts Institute of Technology, Harvard University and the Wellcome Sanger Institute, Cambridge, USA.
The study included samples from more than 35 centers worldwide, including the IBD Cluster of Excellence PMI cohort. In total, samples were collected from approximately 30,000 patients and 80,000 controls. Only with such a large number of samples is it also possible rare variants determine what drives the disease.
The central role of immune cells
“Recently discovered risk variants in Crohn’s disease not only highlight the central role of innate and acquired immune cells, but also autophagy (“cell recycling program”) in the development of the disease, but also reveal the role of mesenchymal cells in intestinal inflammation.”explains co-author Prof. Stefan Schreiber.
“In this way, they help to explore the genetic roots of inflammatory bowel diseases and provide new starting points for the development of new ones. therapy“emphasizes the scientist.
As explained in the press release, mesenchymal cells are a type of stem cell found in the gut. They play a role in maturation, migration and recruitment immune cells. Apparently, according to experts, disruption of these cells contributes to the emergence and maintenance of intestinal inflammation. (ad)
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