Publications

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

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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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.

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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.

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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

A large Canadian cohort provides insights into the genetic architecture of human hair colour

Authors: Frida Lona-Durazo, Marla Mendes, Rohit Thakur, Karen Funderburk, Tongwu Zhang, Michael A. Kovacs, Jiyeon Choi, Kevin M. Brown, Esteban J. Parra 

Researchers performed genome-wide association studies and meta-analyses to garner insight on regulatory mechanisms of hair colour variation and pigmentation biology. 12,996 genotyped CanPath participants were included in this study, along with their self-reported natural hair colour. The researchers fine-mapped significant loci throughout the genome, identifying multiple novel causal variants for hair colour.

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2021

Effect of Cognitive Reserve on the Association of Vascular Brain Injury with Cognition: Analysis of the PURE and CAHHM Studies

Authors: Romella Durrani, Matthias G. Friedrich, Karleen M. Schulze, Philip Awadalla, Kumar Balasubramanian, Sandra Black, Philippe Broet, David Busseuil, Dipika Desai, Trevor Dummer, Alexander Dick, Jason Hicks, Thomas Iype, David Kelton, Anish Kirpalani, Scott A. Lear, Jonathon Leipsic, Wei Li, Cheryl R. McCreary, Alan R. Moody, Michael D. Noseworthy, Grace Parraga, Paul Poirier, Sumathy Rangarajan, Dorota Szczesniak, Andrzej Szuba, Jean-Claude Tardif, Koon Teo, MBBCH, Jennifer E. Vena, Katarzyna Zatonska, Anna Zimny, Douglas S. Lee, Salim Yusuf, Sonia S. Anand, Eric E. Smith

This study sought to determine whether cognitive reserve lessens the correlation between brain injury and cognition. The researchers analyzed data from two population-based studies, including the Canadian Alliance for Healthy Hearts and Healthy Minds (CAHHM), comprising CanPath national and regional data. They found that brain injury and cognitive reserve are related to cognition, but higher cognitive reserve does not mitigate the harmful effects of brain injury.

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2021

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Authors: Urmo Võsa, Annique Claringbould, Lude Franke, et al.

To investigate the genetics of gene expression, the team performed cis- and trans-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals through the eQTLGen Consortium.

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