Breakthrough study more than doubles the genetic information
about Crohn's disease offering hope for better-targeted therapy
for millions of people with inflammatory bowel diseases
MONTREAL and TORONTO, June 29 /CNW Telbec/ - Twenty-one new genetic risk
factors associated with Crohn's disease have been discovered, more than
doubling the amount of genetic information about the disease. An international
consortium of Crohn's disease researchers combined efforts, including major
contributions from Canadian researchers - Dr. John D. Rioux from Montreal
Heart Institute and Université de Montréal and Drs. Mark Silverberg and
Hillary Steinhart from Mount Sinai Hospital in Toronto - to publish this
breakthrough study in Nature Genetics.
"This greatly increases our knowledge of the genetic architecture of
Crohn's and gives us more detailed insight into the biological underpinnings
of the disease," says Mark J. Daly, PhD, of the Massachusetts General Hospital
Center for Human Genetic Research and the Broad Institute of MIT and Harvard,
the report's senior author.
In 2007, three studies compared the genomes of patients with Crohn's
disease to those of healthy individuals - a North American-based study, led by
Dr. John D. Rioux PhD, Associate Professor of Medicine at the Montreal Heart
Institute (MHI) and the Université de Montréal and director of the Laboratory
in Genetic and Genomic Medicine at the MHI, and input from colleagues at five
other institutions, including contributions from Dr. Mark Silverberg, Staff
Gastroenterologist, Mount Sinai Hospital and Assistant Professor of Medicine
and Surgery at the University of Toronto, and Dr. Hillary Steinhart, Chief of
Gastroenterology, Mount Sinai Hospital; a U.K. study supported by the Wellcome
Trust; and a study by a group of French and Belgian investigators - identified
a total number of Crohn's-associated genes to 11. Those explained only a small
proportion of the heritability of Crohn's, which affects over a half a million
people in the U.S and Canada.
The three teams combined their data in the current study that involved
more than 3,200 Crohn's patients with more than 4,800 controls. This study not
only confirmed the 11 previously identified genetic risk factors, but it also
identified 21 new ones. These new discoveries continue to build a picture of
factors leading to the inappropriate immune-system activation that
characterizes the disorder.
"Given the fact that prior to 2007 we only knew of three genetic risk
factors for Crohn's disease truly represents tremendous progress in our
ability to understand Crohn's disease. Specifically this study is indicating
which biological pathways specifically lead to Crohn's disease as well as
which of these pathways are in common with other immune mediated diseases such
as autoimmune diabetes, lupus and rheumatoid arthritis," says Dr. Rioux,
co-author of the current study.
"This is breakthrough research for patients with Crohn's disease and one
of the most significant advances in our understanding of this disease, to
date," says Dr. Silverberg, co-author of the study. "Our research was
successful because of the international collaborative approach."
Finally, Rioux stated that "the hope is that the identification of the
biological paths that lead to Crohn's disease can be translated into useful
clinical tools for improved diagnosis, classification and treatment of this
In total, the effort constituted a collaboration between clinical genetic
researchers from 25 institutions across North America - including Yale
University, University of Pittsburgh, Université de Montréal, University of
Toronto, Johns Hopkins University, and Cedars-Sinai Medical Center in Los
Angeles - the United Kingdom, Belgium and France. The team is committed to
further advancing these results in collaboration with investigators from
additional countries. Support for the study came from several organizations,
including the National Institute of Diabetes and Digestive and Kidney
Diseases, through the Inflammatory Bowel Disease Genetic Consortium.
About Crohn's diseases and ulcerative colitis
Inflammatory bowel disease, or IBD, describes two similar yet distinct
conditions called Crohn's disease and ulcerative colitis. These diseases
affect the digestive system and cause the intestinal tissue to become
inflamed, form sores and bleed easily. Symptoms include abdominal pain,
cramping, fatigue and diarrhea.
Crohn's disease may affect the gastrointestinal tract, from the mouth to
the anus, and while Crohn's disease can not be cured by drugs or surgery,
either may relieve symptoms. In Canada, an estimated 170,000 Canadian men and
women suffer from IBD, most frequently between the ages of 15-25, or 45-55. It
is particularly difficult for children and young adults since it often affects
a person's self-concept. IBD is found throughout the world. However, it
appears to be most common in North America and northern Europe with Canada
having one of the highest incidences rates of IBD in the world. In the U.S.,
more than 1 million Americans have Crohn's or colitis.
About the Montreal Heart Institute: www.icm-mhi.org.
About the Université de Montréal: www.umontreal.ca.
About Mount Sinai Hospital: www.mountsinai.on.ca
For further information:
For further information: Doris Prince, Head, Communications and Public
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Specialist, Mount Sinai Hospital, Joseph and Wolf Lebovic Complex, (416)
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