Study gives insight into cause of severe inflammatoryboweldisease
The variant generates changes to DNA that lead to a loss of protein function, which in turn alters how the body recognizes and handles bacteria, making it less effective at fighting infections."Fistulizing perianal Crohn's disease can be a really miserable condition," said co-senior author of the study Dermot McGovern, MD, Ph.D., director of Translational Research in the Cedars-Sinai F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute and the Joshua L.
Perianal Crohn's disease is a complication of Crohn's disease, a chronic inflammatory disorder that affects the digestive tract. The complication causes inflammation and ulceration of the skin around the anus, as well as other structures in the perianal area. Perianal Crohn's disease occurs in up to 40% of people with Crohn's disease and has limited treatment responses, resulting in a poor quality of life.
"We have become much more successful in identifying genetic variants associated with 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.
To discover genetic variants with a direct tie to this severe manifestation, investigators analyzed genetic data from three independent cohorts of patients with Crohn's disease. The groups included a Cedars-Sinai cohort, an international genetics cohort recruited from over 20 countries, and a cohort recruited from seven academic research medical centers throughout the United States.
The team of scientists compared the cohorts to see if they could detect genetic loci, which are areas of the genome associated with developing this manifestation.
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