Publications

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

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

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

Chronic Disease Surveillance in Alberta’s Tomorrow Project using Administrative Health Data

Authors: Ming Ye, Jennifer Vena, Jeffrey Johnson, Grace Shen-Tu, Dean Eurich

This study linked data from 52,770 Alberta’s Tomorrow Project participants with Alberta Health data to describe the prevalence and incidence of chronic diseases. Researchers found an increase in chronic diseases among the cohort, especially for cardiovascular diseases and multimorbidity.

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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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2021

Psychosocial factors and cancer incidence (PSY-CA): Protocol for individual participant data meta-analyses

Authors: Lonneke van Tuijl, Adri Voogd, Alexander de Graeff, Adriaan Hoogendoorn, Adelita Ranchor, Kuan-Yu Pan, Maartje Basten, Femke Lamers, Mirjam Geerlings, Jessica Abell, Philip Awadalla, Marije Bakker, Aartjan Beekman, Ottar Bjerkeset, Andy Boyd, Yunsong Cui, Henrike Galenkamp, Bert Garssen, Sean Hellingman, Martijn Huisman, Anke Huss, Melanie Keats, Almar Kok, Annemarie Luik, Nolwenn Noisel, N. Charlotte Onland-Moret, Yves Payette, Brenda Penninx, Lützen Portengen, Ina Rissanen, Annelieke Roest, Judith Rosmalen, Rikje Ruiter, Robert Schoevers, David Soave, Mandy Spaan, Andrew Steptoe, Karien Stronks, Erik Sund, Ellen Sweeney, Alison Teyhan, Ilonca Vaartjes, Kimberly van der Willik, Flora van Leeuwen, Rutger van Petersen, Monique Verschuren, Frank Visseren, Roel Vermeulen, Joost Dekker

This study aims (1) to test whether psychosocial factors are associated with the incidence of any cancer; (2) to test the interaction between psychosocial factors and factors related to cancer risk with regard to the incidence of cancer; and (3) to test the mediating role of health behaviors in the relationship between psychosocial factors and the incidence of cancer.

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2021

Two approaches for estimating propensity score weights for examining neighbourhood built environment and walking changes

Authors: Chelsea Christie, Jennifer Vena, Christine Friedenreich, Gavin McCormack

Christie et al. created a walkability index using pre- and post-relocation neighbourhood built environment and walking data from Alberta’s Tomorrow Project participants to examine how walking duration changed with residential relocation. While changes in walkability were not associated with changes in walking, the researchers suggest further research regarding neighbourhood environment changes and other physical activity behaviours.

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2021

Post-Treatment Adverse Health Correlates among Prostate Cancer Survivors in a Sample of Men Residing in Atlantic Canada

Authors: Gabriela Ilie, Robert Rutledge, Ellen Sweeney

A cross-sectional analysis was conducted on a subsample of 632 male participants aged 36–69 the Atlantic PATH. The primary outcomes were the presence of mild, moderate or severe depression or anxiety indicators and were assessed using the seven-item generalized anxiety disorder (GAD-7) scale and the nine-item Patient Health Questionnaire (PHQ-9), respectively.

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2021

Environmental Correlates of Physical Activity, Sedentary Behavior, and Self-Rated Health in Chronic Obstructive Pulmonary Disease

Authors: Daniel Stevens, Pantelis Andreou, Daniel Rainham

This study sought to investigate associations between the environment and physical activity, sedentary behavior, and self-rated health in Chronic Obstructive Pulmonary Disease. The new data may identify barriers to physical activity and assist clinicians in the prescription of exercise for individuals living with COPD.

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