A pair of discoveries helps unravel complex genetics of inflammatory bowel disease

he disease, was examined using several genetic techniques. They found a clear association between IBD and the MDR1 gene. Like NFKB1, mouse genetic studies similarly suggested that the MDR1 gene was important in colitis, alerting researchers to the potential importance of MDR1 to human IBD.

"Taken together, these new discoveries combine with the original NOD2 gene discovery and will hopefully lead to ways to intervene and possibly prevent IBD from occurring," says Brant. In addition to their association with IBD, Brant hopes the new discoveries will prove useful to researchers working on different diseases.

Crohn's disease and ulcerative colitis primarily affect the intestines, resulting in pain, severe diarrhea, intestinal bleeding, weight loss and fever. Symptoms vary in severity and duration; some patients suffer from frequent prolonged attacks, and others have fewer recurrences. The disease usually starts in the adolescent or young adult years. In ulcerative colitis, the inner lining of the colon is inflamed. People with Crohn's disease have similar inflammation, but it extends deeper into the intestinal wall and can also involve the small and large intestines.

Researchers from Johns Hopkins University, University of Chicago, University of Pittsburgh and the Cleveland Clinic participated in both studies, and researchers from University of Toronto and New York University participated in the NFKB1 study. These studies were funded by the National Institutes of Health, the Crohn's and Colitis Foundation of America, the Meyerhoff IBD Center, the Stewart W. Bainum family, the Reva and David Logan Foundation, the Scaife Family Foundation, the Israeli Society of Gastroenterology, Toyobo Biotechnology Foundation, the Crohn's and Colitis Foundation of Canada, the Canadian Association of Gastroenterology, the Canadian Institutes of Health Research, , and the Gastrointestinal Research Foundation.

Functional Annotation of a Novel NFKB1

Contact: Trent Stockton
Johns Hopkins Medical Institutions

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