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First genome-wide association study in paediatric inflammatory bowel diseases advances understanding of Crohn’s and colitis in youth

November 13, 2009 – In an international collaborative study, investigators from Mount Sinai Hospital and The Hospital for Sick Children (SickKids) have discovered five new regions in the genome associated with susceptibility to inflammatory bowel diseases (IBD) in children and adolescents. This is a major step toward understanding the causes of these diseases and the development of advanced drug therapies.

The study, published in Nature Genetics on November 15, is the first genome-wide association study performed exclusively in early-onset IBD and the largest paediatric study of its kind. The work was performed in over 3,400 patients recruited by a group of researchers from the USA, Italy and Scotland in addition to the Toronto team. Most research to date has focused on adult-onset IBD. One of the most significant findings in the new study is the close relationship between early- and adult-onset IBD. 

“We know that inflammatory bowel diseases in the paediatric population behave differently in some ways than in adults, but that they also share many similarities,” explains Dr. Mark Silverberg, one of the paper’s senior authors and Associate Member of the Samuel Lunenfeld Research Institute of Mount Sinai and the Gale and Graham Wright Research Chair in Digestive Diseases. “The incidence of IBD is on the rise among Canadian youth. It can be a devastating disease for young people and until now, there has been an unfortunate gap in knowledge about early-onset IBD. These findings will help us identify the genetic defects and causes of IBD in children and young adults so that we can better understand why children develop IBD and develop improved drug therapies for paediatric patients.”

“We found that the same genes that are known to make people susceptible to developing IBD later in life also lead to the early onset of IBD in children and adolescents,” says Dr. Anne Griffiths, co-principal author of the study, Head of the Division of Gastroenterology, Director of the IBD Program and Associate Scientist at SickKids Research Institute. “The genes we identified and confirmed in this study point the way to a better understanding of the causes of IBD and provide clues for further research in this area,” adds Dr. Griffiths, who is also a Professor of Paediatrics at the University of Toronto.

Crohn’s disease and ulcerative colitis are the most common types of IBD. These are chronic diseases resulting in symptoms of diarrhea, rectal bleeding and abdominal pain. Medications and surgery do not cure IBD, but can control symptoms of the disease. In the paper, the authors state that Crohn’s disease and ulcerative colitis are common causes of morbidity in children and young adults in the western world. Canada has one of the highest rates of IBD in the world with approximately 4,900 youths affected, as was recently demonstrated by SickKids researchers using Ontario health administrative data.

The Toronto research team worked with The Children’s Hospital of Philadelphia (CHOP) and other international centres.

Funding was provided by CHOP, the Crohn’s and Colitis Foundation of Canada, Canadian Institutes of Health Research, the National Institutes of Health, the Canadian Child Health Clinician Scientist Program, the Canadian Association of Gastroenterology, AstraZeneca and SickKids Foundation. 

About Mount Sinai Hospital

Mount Sinai Hospital is an internationally recognized, 472-bed acute care academic health sciences centre affiliated with the University of Toronto. It is known for excellence in the provision of compassionate patient care, innovative education, and leading-edge research. Mount Sinai’s Centres of Excellence include Women's and Infants' Health; Surgery and Oncology; Acute and Chronic Medicine; Laboratory Medicine and Infection Control, and the Samuel Lunenfeld Research Institute.

About The Hospital for Sick Children (SickKids)

The Hospital for Sick Children (SickKids), affiliated with the University of Toronto, is one of Canada’s most research-intensive hospitals and one of the world’s leading centres dedicated to improving children’s health. As innovators in child health, SickKids improves the health of children by integrating care, research and teaching. Our mission is to provide the best in complex and specialized care by creating scientific and clinical advancements, sharing our knowledge and expertise and championing the development of an accessible, comprehensive and sustainable child health system. For more information, please visit SickKids is committed to healthier children for a better world.

Media contacts

Melissa McDermott
Mount Sinai Hospital
416-586-4800 ext. 8306

Matet Nebres
The Hospital for Sick Children