Publications

These publications are examples of research made possible with data from CanPath and its regional cohorts.

2022

Analyzing cohort studies with interval-censored data: A new model-based linear rank-type test

Authors: Rodolphe Jantzen, Pascale Tubert-Bitter, Philippe Broët

When analyzing cohort studies with interval-censored data, the researchers suggest that statisticians employ their proposed test to test survival distributions’ quality between two or more groups.

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2022

Socio-Demographic Factors Associated With COVID-19 Vaccine Hesitancy Among Middle-Aged Adults During the Quebec’s Vaccination Campaign

Authors: Rodolphe Jantzen, Mathieu Maltais, Philippe Broët

This study aimed to describe how socioeconomic and demographic characteristics affect vaccine hesitancy. Using data from 6,105 CARTaGENE participants, researchers found that those born outside of Canada and those with a household income under $100,000 had the greatest hesitancy.

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2022

Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE

Authors: Rodolphe Jantzen, Yves Payette, Thibault de Malliard, Catherine Labbé, Nolwenn Noisel, Philippe Broët

This study aimed to assess the Colorectal Cancer Risk Assessment tool’s predictive performance alongside three polygenic risk scores to predict the occurrence of colorectal cancer within five years. Using data from 6,747 CARTaGENE participants, the researchers found that this tool requires better calibrations before practical use in Québec.

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2022

Is Food Outlet Accessibility a Significant Factor of Fruit and Vegetable Intake? Evidence from a Cross-Sectional Province-Wide Study in Quebec, Canada

Authors: Alex-Ane Mathieu, Éric Robitaille, Marie-Claude Paquette

This study aimed to understand the effect of the environment, particularly food outlet accessibility, on diet. Using data from 7,783 CARTaGENE participants, researchers found no significant results and suggest future research. However, relationships between fruit and vegetable intake and sex, income, and education were recognized.

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2022

Occupational Exposures and Lung Cancer Risk – An Analysis of the CARTaGENE Study

Authors: Saeedeh Moayedi-Nia, Romain Pasquet, Jack Siemiatycki, Anita Koushik, Vikki Ho

This study aimed to understand the relationship between common occupational agents (e.g., ashes, cooking fumes) and lung cancer risk. Researchers found that increased lung cancer risk was linked to many of these agents, but lower lung cancer risk was found among those exposed to carbon monoxide and polycyclic aromatic hydrocarbons from petroleum.

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2021

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Authors: Caitlin T. Fierheller, Laure Guitton-Sert, Wejdan M. Alenezi, Timothée Revil, Kathleen K. Oros, Yuandi Gao, Karine Bedard, Suzanna L. Arcand, Corinne Serruya, Supriya Behl, Liliane Meunier, Hubert Fleury, Eleanor Fewings, Deepak N. Subramanian, Javad Nadaf, Jeffrey P. Bruce, Rachel Bell, Diane Provencher, William D. Foulkes, Zaki El Haffaf, Anne-Marie Mes-Masson, Jacek Majewski, Trevor J. Pugh, Marc Tischkowitz, Paul A. James, Ian G. Campbell, Celia M. T. Greenwood, Jiannis Ragoussis, Jean-Yves Masson, Patricia N. Tonin

Researchers sought to describe how new genes might be associated with ovarian cancer risk amongst 5,249 CARTaGENE participants. They found that a FANCI gene mutation is more common in familial ovarian cancer patients.

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2021

Estimated prevalence of Niemann–Pick type C disease in Quebec

Authors: Marjorie Labrecque, Lahoud Touma, Claude Bhérer, Antoine Duquette & Martine Tétreault

Researchers sought to estimate the prevalence of Niemann-Pick type C disease – an autosomal recessive disease that often results in psychiatric problems in adults – in Québec and determine whether it is underdiagnosed in this province. With CARTaGENE RNA-sequencing data from 911 participants and exome sequencing from 198 participants, researchers estimated the prevalence as 0.61 in 100,000 births.

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2021

The impact of reporting magnetic resonance imaging incidental findings in the Canadian alliance for healthy hearts and minds cohort

Authors: Judy M. Luu, Anand K. Sergeant, Sonia S. Anand, Dipika Desai, Karleen Schulze, Bartha M. Knoppers, Ma’n H. Zawati, Eric E. Smith, Alan R. Moody, Sandra E. Black, Eric Larose, Francois Marcotte, Erika Kleiderman, Jean-Claude Tardif, Douglas S. Lee, Matthias G. Friedrich on behalf of the CAHHM Study Investigators

This study aimed to describe the management policy for incidental findings (IFs) for the Canadian Alliance for Healthy Hearts and Minds (CAHHM) cohort and understand IF disclosure effects for participants. IF management is challenging, though results are promising for the CAHHM’s policies since 97% of participants with an IF reported no change in their quality of life.

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2021

Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control

Authors: Johanne Tremblay, Mounsif Haloui, Redha Attaoua, Ramzan Tahir, Camil Hishmih, François Harvey, François-Christophe Marois-Blanchet, Carole Long, Paul Simon, Lara Santucci, Candan Hizel, John Chalmers, Michel Marre, Stephen Harrap, Renata Cífková, Alena Krajčoviechová, David R. Matthews, Bryan Williams, Neil Poulter, Sophia Zoungas, Stephen Colagiuri, Giuseppe Mancia, Diederick E. Grobbee, Anthony Rodgers, Liusheng Liu, Mawussé Agbessi, Vanessa Bruat, Marie-Julie Favé, Michelle P. Harwood, Philip Awadalla, Mark Woodward, Julie G. Hussin & Pavel Hamet

This study assessed whether cardiovascular and renal risk factors combined with the age of onset and duration of diabetes are sufficient predictors of type 2 diabetes. Of the 21,702 participants, 488 participants with type 2 diabetes originated from CanPath. The researchers developed a prediction model to help identify high-risk individuals who could benefit from therapies and treatments.

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2021

Epidemiological characteristics of the COVID-19 spring outbreak in Quebec, Canada: a population-based study

Authors: Rodolphe Jantzen, Nolwenn Noisel, Sophie Camilleri-Broet, Catherine Labbe, Thibault de Malliard, Yves Payette, Philippe Broet

This study examined the epidemiological and socio-economic impact of the spring 2020 outbreak of COVID-19 on the Quebec population. An online survey of the participants of CARTaGENE was conducted, with 8,129 respondents. The study found some discrepancies between the symptoms associated with being tested and being positive. The results also emphasize the need for increasing the accessibility of testing for the general population.

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