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Centre de recherche
Wednesday, February 6 2008

Launch of a study on the genetic epidemiology of celiac disease

Researchers from CHU Sainte-Justine initiate a study on the genetic epidemiology of celiac disease in 500 Québec families

For the first time in Canada, a research team from Sainte-Justine hospital is initiating a genetic and epidemiological study of celiac disease sufferers and their families. Dr. Idriss Saïah, renowned for his research on immunogenetics of type I diabetes and auto-immune hepatitis, will direct the study.

This focus group study of children will look at susceptibility genes in celiac disease and will make it possible to screen Québec families who have one or several members with the disease.

Accompanied by Soeur Angèle, well-known culinary personality and spokesperson for the Québec Celiac Foundation, Dr. Saïah enthusiastically announced this Canadian first. This important study of 500 families is innovative and non-invasive for subjects, since saliva samples are used for screening.

The most common genetic disorder in North America and Europe

Celiac disease is a complex, polygenic multifactorial autoimmune disease. It is caused by a permanent intolerance to gluten (protein found in several cereals) and results in inflammatory destruction of the small intestine, which is responsible for absorption of food. The disease is caused by the immune system’s abnormal response to gluten. The disease is now considered to be the most common genetic disorder in Europe and North America. With a prevalence of 1%, it is estimated that about 76 000 Quebecers and more than 300 000 Canadians have the disease.

“Despite the high prevalence rate and serious consequences (like cancer) that result from late diagnosis or from not following a gluten-free diet, research and support for patients are underestimated by funding agencies,” says Dr. Saïah.

Soeur Angèle, spokesperson for the activities organized around the Québec Celiac Foundation’s 25th anniversary, is very concerned by the daily lives of children and adults with celiac disease.

“For me, spreading the word about the disease is essential. But a new study, that’s even better. It is important that Quebecers be aware of the symptoms of the disease so they can consult a specialist and finally find a solution to their ailment. Because I know the pleasures of good food, I can understand people with the disease who have to follow a strict gluten-free diet and change their eating habits for life. That’s why I want to get involved,” explained Soeur Angèle.

Importance of early diagnosis

Dr. Claude Roy, gastroenterologist and researcher at the CHU Sainte-Justine, adds “Early diagnosis of celiac disease can make all the difference to a person’s quality of life, especially for children, who often experience growth retardation. It is well known that undiagnosed, and therefore untreated, patients are at higher risk of serious long-term complications such as lymphomas, autoimmune diseases, infertility, anaemia, malnutrition, osteoporosis, and psychoneurological disorders.”

Early diagnosis of the disease on a clinical basis is often difficult. Many cases with atypical, silent or asymptomatic forms of the disease go undiagnosed because of the lack of information and poor access to diagnostic tests. The blood and genetic tests proposed in this study will identify people at risk of developing the disease in families with a member who is already affected. Moreover, these tests will help determine whether or not a biopsy should be performed to confirm the diagnosis.

Based on his extensive experience, Dr. Roy estimates that the study results will shed new light on the prevalence of this disease in Québec. Thanks to the knowledge generated by this genetic study, researchers will be able to identify individuals who are predisposed to the disease in families with a member who is already affected, and in due course to develop prevention strategies.

Province-wide recruitment

The Québec Celiac Foundation is providing funding for the research project and is also organizing the recruitment of 500 families (over 2000 individuals) throughout Québec. To date, over 350 families have registered to participate in the study.

Understanding the disease better

According to the study director, Dr. Saïah, “This study will help us better understand the history of the disease in Québec, and could be applied not only Canada-wide but also internationally.” The findings will enable us to shed new light on the prevalence and morbidity of the disease in Québec, to eventually develop new preventive measures, and to make the public, governments and health services more aware of the extent of this disease and its socio-economic consequences.

The Centre hospitalier universitaire Sainte-Justine is the largest mother-child centre in Canada and one of the four most important paediatric centres on the American continent. It encompasses 450 beds, admits 19 000 people annually and welcomes 260 000 patients at its outpatient clinic. It has over 4 000 employees. The CHU Sainte-Justine is by far the largest paediatric training centre in Québec and a leader in Canada. CHU Sainte-Justine and its research centre’s international reputation is quite impressive. CHU Sainte-Justine celebrated its hundredth anniversary in 2007.

The Québec Celiac Foundation is a non-profit organization created in 1983 to provide assistance to people with celiac disease. It offers support and advice to its members as well as up-to-date information on the disease and the only way to control it, a gluten-free diet. The Foundation currently has over 2,300 members. Since 2007, the Foundation has had a scientific committee to promote research on the disease and offer financial support (scholarships) to graduate students.

For information
CHU Sainte-Justine FQMC

Lise Oligny
(514) 529-8806

Nicole Saint-Pierre
Communications advisor
CHU Sainte-Justine
(514) 345-4663

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Updated on 11/20/2014
Created on 11/20/2014
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