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Int J Epidemiol. 2013 Oct;42(5):1285-99. doi: 10.1093/ije/dys160. Epub 2012 Oct 15.

Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics.

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Department of Pediatrics, Faculty of Medicine, Université de Montreal, Montreal, Canada, Centre de Recherche du Centre Hospitalier Universitaire (CHU) Sainte-Justine, CARTaGENE, Canada, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Canada, Department of Medicine, Faculty of Medicine, Université de Montréal, Montreal, Canada and Centre de Recherche du Centre Hospitalier Universitaire du Québec (CHUQ), Université Laval, Québec, Canada.


The CARTaGENE (CaG) study is both a population-based biobank and the largest ongoing prospective health study of men and women in Quebec. In population-based cohorts, participants are not recruited for a particular disease but represent a random selection among the population, minimizing the need to correct for bias in measured phenotypes. CaG targeted the segment of the population that is most at risk of developing chronic disorders, that is 40-69 years of age, from four metropolitan areas in Quebec. Over 20,000 participants consented to visiting 1 of 12 assessment sites where detailed health and socio-demographic information, physiological measures and biological samples (blood, serum and urine) were captured for a total of 650 variables. Significant correlations of diseases and chronic conditions are observed across these regions, implicating complex interactions, some of which we describe for major chronic conditions. The CaG study is one of the few population-based cohorts in the world where blood is stored not only for DNA and protein based science but also for gene expression analyses, opening the door for multiple systems genomics approaches that identify genetic and environmental factors associated with disease-related quantitative traits. Interested researchers are encouraged to submit project proposals on the study website (

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