Researchers from the University Hospital of the Christian-Albrechts University in Kiel, Germany and Applied Biosystems, an Applera Corporation Business, have identified and characterized a genetic variation in a gene not previously associated with the disorder that can provide further evidence that an abnormal immune response to bacteria in the digestive tract may lead to the intestinal inflammation characteristic of the disease.
The results of the team’s three-year collaboration will be published in the February issue of Nature Genetics.
The research team tested DNA samples from patients with Crohn’s disease using the Applied Biosystems SNPlex™ Genotyping System, which employs pre-designed assays on the company’s capillary electrophoresis DNA analysis platform.
As part of the genotyping study, the team conducted a genome-wide association scan of approximately 20,000 coding genetic variants that are thought to produce functional changes at the protein level.
According to the researchers, among their findings, they identified a protein-coding genetic variation in the autophagy-related 16-like (ATG16L1) gene. Neither the ATG16L1 gene, nor this specific genetic variation, has been previously implicated in Crohn’s disease. The ATGI6LI gene is part of the autophagosome biological pathway, which normal cells use to destroy harmful bacteria.
“With the discovery of APG16L1 as a new gene associated with Crohn’s disease, we have demonstrated the power of a targeted, genome-wide investigation of coding SNPs,” said Stefan Schreiber, M.D., Ph.D., Professor of Medicine at the Christian-Albrechts University in Kiel, Germany, and senior author of the study.
“We also have discovered a further piece of evidence that highlights epithelial cells in the digestive tract and therefore a weakened barrier function as the most likely target for the underlying etiology of chronic inflammatory bowel disease,” said Schreiber.