Gene Mutations Linked to Crohn’s Disease in Ashkenazi Jews

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 population.

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 Europeans.

“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 PLoS
Genetics
.

More information

The U.S. National Institute of Diabetes and Digestive and Kidney
Diseases has more about Crohn’s disease.

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