Gene Mutations Linked to Crohn's Disease in Ashkenazi
THURSDAY, March 8 (HealthDay News) -- Researchers have
identified five new genetic mutations associated with Crohn's
disease in Jews of Eastern European descent (Ashkenazi Jews) and
say their findings may help explain why Crohn's is nearly four
times more prevalent in this group than in the general
Crohn's is an inflammatory bowel disease that causes swelling
and irritation in the digestive tract. Symptoms include abdominal
pain, diarrhea, rectal bleeding, weight loss, and fever.
Previous research pinpointed 71 genetic variants associated with
Crohn's disease risk in people of European ancestry. In this new
study, Mount Sinai School of Medicine researchers compared almost
2,000 Ashkenazi Jews with Crohn's disease to another 4,500
Ashkenazi Jews without the disease.
The team found 12 of the known risk variants and also discovered
five new genetic risk regions on chromosomes 5q21.1, 2p15, 8q21.11,
10q26.3 and 11q12.1.
"This is the largest study to date, and the first to discover the unique risk factors of Crohn's disease in the Ashkenazi Jewish population," study leader Inga Peter, an associate professor of genetics and genomic sciences, said in a Mount Sinai news release.
"The prevalence of this disease is so much higher in Ashkenazi Jews, and the involvement of genetic variants predominant in this population might help understand why that is," she added.
The researchers also found that the genetic structure of the
newly-identified regions associated with Crohn's disease risk in
Ashkenazi Jews was much less diverse than that of non-Jewish
"Not only did we discover different risk factors for Ashkenazi Jews, but we found that some previously known risk factors are more potent to this population," Peter said. "Armed with this new information, we can begin to analyze the specific signals in order to pinpoint causal genetic mutations, discover why they are malfunctioning, and eventually develop novel treatment approaches."
The study is published March 8 in the online edition of
The U.S. National Institute of Diabetes and Digestive and Kidney
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