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An international consortium of researchers has identified genetic variants in 10 genes that increase a person's susceptibility
The study, led by scientists from the Wellcome Sanger Institute, the Massachusetts Institute of Technology and the Broad Institute at Harvard University, is the largest study to date focused on rare variants associated with Crohn's disease and is published today in the
Crohn's disease (CD) is a debilitating disease
With a few rare exceptions, CDs do not have a single genetic cause
In the study, researchers at the Wellcome Sanger Institute and the Broad Institute set out to identify rare genetic variants
This identified genetic variants in 6 gene regions in the genome that had not previously been thought to be associated
Dr Aleksejs Sazonovs, from the Wellcome Sanger Institute, lead author of the study, said: "Most people will have some genetic variants that increase susceptibility to inflammatory bowel disease because they are so
The remaining 4 genes found by the team are located in the genomic region previously associated with IBD through GWAS
There is a rare variant in the TAGAP gene that can reduce a person's likelihood of
"The key when thinking about how to develop new therapies is that we can pinpoint specific genetic variants that increase or decrease a person's risk of developing the disease," the authors
The next step is to extend the method to ulcerative colitis and increase the scale of sampling, hoping to find all the variants and genes
Editor's Notes:
Exomes make up 1-2% of the genome encoding proteins
Mesenchymal cells make up most of the body's soft or connective tissue, such as muscles and ligaments
magazine
Venkataraman and Kai Yuan et al.