Scientists at Cedars-Sinai have identified a genetic variant that is associated with perianal Crohn's disease. Investigators at Cedars-Sinai have discovered a genetic variant that elevates an individual's likelihood of experiencing perianal Crohn's disease, which is considered to be the most severe
Perianal Crohn’s disease is a type of inflammatory bowel disease that affects the area around the anus. It can cause symptoms such as pain, itching, and discharge, as well as more serious complications such as abscesses and fistulas.
“We have become much more successful in identifying genetic variants associated with the risk of developing diseases, but what we did here is specifically focus on a very complicated and severe manifestation of Crohn’s disease. And that’s an unusual approach in genetic research,” said Talin Haritunians, Ph.D., a research assistant professor who is part of the McGovern Laboratory and co-first author of the study.
The team identified 10 novel genetic loci and 14 known inflammatory bowel disease loci to be associated with the development of perianal complications. “In the case where you have this mutation that leads to a nonfunctional protein, you don’t get the normal signaling cascade, and the body doesn’t recognize the bacteria as being harmful, and thus those bacteria are not eliminated,” said co-senior author of the study Kathrin Michelsen, Ph.D., a research assistant professor of Medicine and Biomedical Sciences at Cedars-Sinai.
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