Publications

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

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.

Read Publication
2022

Lifestyle factors and lung cancer risk among never smokers in the Canadian Partnership for Tomorrow’s Health (CanPath)

Authors: Rachel Murphy, Maryam Darvishian, Jia Qi, Yixian Chen, Quincy Chu, Jennifer Vena, Trevor J B Dummer, Nhu Le, Ellen Sweeney, Vanessa DeClercq, Scott A Grandy, Melanie R Keats, Yunsong Cui, Philip Awadalla, Darren R Brenner, Parveen Bhatti

Data from 950 CanPath participants were analyzed to understand why 15-25% of lung cancers occur in never smokers. Researchers found a link between lung cancer risk, sleep, and fruit and vegetable intake amongst never smokers.

Read Publication
2022

Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin

Authors: Christina B. Joseph, Marta Mariniello, Ayumi Yoshifuji, Guglielmo Schiano, Jennifer Lake, Jonathan Marten, Anne Richmond, Jennifer E. Huffman, Archie Campbell, Sarah E. Harris, Stephan Troyanov, Massimiliano Cocca, Antonietta Robino, Sébastien Thériault, Kai-Uwe Eckardt, Matthias Wuttke, Yurong Cheng, Tanguy Corre, Ivana Kolcic, Corrinda Black, Vanessa Bruat, Maria Pina Concas, Cinzia Sala, Stefanie Aeschbacher, Franz Schaefer, Sven Bergmann, Harry Campbell, Matthias Olden, Ozren Polasek, David J. Porteous, Ian J. Deary, Francois Madore, Philip Awadalla, Giorgia Girotto, Sheila Ulivi, David Conen, Elke Wuehl, Eric Olinger, James F. Wilson, Murielle Bochud, Anna Köttgen, Caroline Hayward, Olivier Devuyst

This study is a meta-analysis of genome-wide association studies to understand the mechanisms that regulate urinary excretion of uromodulin. Researchers identified two novel significant loci, providing insight into uromodulin’s biology, keratins’ role in the kidney, and the UMOD-PDILT locus’s influence on kidney function.

Read Publication
2022

FGF23-Klotho axis and fractures in patients without and with early CKD: A case-cohort analysis of CARTaGENE

Authors: Louis-Charles Desbiens, Aboubacar Sidibé, Roth-Visal Ung, Fabrice Mac-Way

Researchers sought to assess the relationship between fibroblast growth factor-23 (FGF-23) and fractures, especially in chronic kidney disease (CKD). With data and biological samples from 312 CARTaGENE participants (153 with CKD), they found that c-terminal FGF-23 (cFGF-23) greatly reduced the relationship between CKD status and fractures.

Read Publication
2022

Evaluation of Adiposity and Cognitive Function in Adults

Authors: Sonia S. Anand, Matthias G. Friedrich, Douglas S. Lee, Phillip Awadalla, J. P. Després, Dipika Desai, Russell J. de Souza, Trevor Dummer, Grace Parraga, Eric Larose, Scott A. Lear, Koon K. Teo, Paul Poirier, Karleen M. Schulze, Dorota Szczesniak, Jean-Claude Tardif, Jennifer Vena, Katarzyna Zatonska, Salim Yusuf, MBBS, DPhil, 1 and Eric E. Smith, MD, MPH 19 , 20 , 21 , for the Canadian Alliance of Healthy Hearts and Minds (CAHHM) and the Prospective Urban and Rural Epidemiological (PURE) Study Investigators

Researchers sought to undercover the association between adipose tissue (amount and distribution) and cognitive scores. Using data from 9,189 participants, they found that higher visceral adipose tissue and body fat percentage correlated with increased vascular brain injuries and cardiovascular risk factors, as well as lower cognitive scores.

Read Publication
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.

Read Publication
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.

Read Publication
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.

Read Publication
2022

Association of essential tremor with novel risk loci: A genome-wide association study and meta-analysis

Authors: Calwing Liao, Charles-Etienne Castonguay, Karl Heilbron, Veikko Vuokila, Miranda Medeiros, Gabrielle Houle, Fulya Akçimen, Jay P. Ross, Helene Catoire, Monica Diez-Fairen, Jooeun Kang, Stefanie H. Mueller, Simon L. Girard, Franziska Hopfner, Delia Lorenz, Lorraine N. Clark, Alexandra I. Soto-Beasley, Stephan Klebe, Mark Hallett, Zbigniew K. Wszolek, Manuela Pendziwiat, Oswaldo Lorenzo-Betancor, Klaus Seppi, Daniela Berg, Carles Vilariño-Güell, Ronald B. Postuma, Geneviève Bernard, Nicolas Dupré, Joseph Jankovic, Claudia M. Testa, Owen A. Ross, Thomas Arzberger, Sylvain Chouinard, Elan D. Louis, Paola Mandich, Carmine Vitale, Paolo Barone, Elena García-Martín, Hortensia Alonso-Navarro, José A. G. Agúndez, Félix Javier Jiménez-Jiménez, Pau Pastor, Alex Rajput, Günther Deuschl, Gregor Kuhlenbaümer, Inge A. Meijer, Patrick A. Dion, Guy A. Rouleau, for the 23andMe Research Team

This study revealed five genome-wide significant loci associated with essential tremor (ET), one of the most common movement disorders. The researchers’ findings suggest that common genetic variation partly explains ET’s heritability.

Read Publication
2021

Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?

Authors: Simon Fournier, Yves Dauvilliers, Simon C. Warby, Marjorie Labrecque, Antonio Zadra, Soufiane Boucetta, Maryam El Gewely, Houda Kaddioui, Régis Lopez, Jacques Y. Montplaisir, Eric Bareke, Martine Tétreault, Alex Desautels

This study aimed to understand if ADA gene variants are related to sleepwalking. Using data from 157 CARTaGENE participants, as well as participants from other cohorts and databases, researchers found no association between the ADA gene and sleepwalking.

Read Publication