Publications

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

2022

Prediction of Cardiovascular Events by Pulse Waveform Parameters: Analysis of CARTaGENE

Authors: Louis-Charles Desbiens, Catherine Fortier, Annie-Claire Nadeau-Fredette, François Madore, Bernhard Hametner, Siegfried Wassertheurer, Mohsen Agharazii, Rémi Goupil

Researchers conducted the largest study to date evaluating non-invasive pulse waveform parameters’ association with cardiovascular events. By adding two waveform parameters to the existing atherosclerotic cardiovascular disease score, they improved cardiovascular prediction and reclassified up to 5.7% of patients in another risk category.

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2022

Harnessing the power of data linkage to enrich the cancer research ecosystem in Canada

Authors: Robin Urquhart, Philip Awadalla, Parveen Bhatti, Trevor Dummer, Simon Gravel, Jennifer Vena, Riaz Alvi, Philippe Broet, Cynthia Kendell, Victoria Kirsh, Guillaume Lettre, Kimberly Skead, Grace Shen-Tu, Ellen Sweeney, Donna Turner

This abstract discusses a project aimed at linking cancer registry and administrative health data to Canada’s largest population health study, the Canadian Partnership for Tomorrow’s Health (CanPath). The project seeks to enrich the cancer research ecosystem in Canada by providing researchers with a comprehensive dataset that includes genetics, environment, lifestyle, and behaviour data. The linked data will be made available through a cloud-based solution called the CanPath Data Safe Haven, which is accessible to researchers through secure access. The project will address concerns related to the accessibility of cancer data in Canada, bring more value to existing data, and support an enhanced understanding of the impacts of cancer on marginalized populations.

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2022

Cohort Profile: The Ontario Health Study (OHS)

Authors: Victoria A Kirsh, Kimberly Skead, Kelly McDonald, Nancy Kreiger, Julian Little, Karen Menard, John McLaughlin, Sutapa Mukherjee, Lyle J Palmer, Vivek Goel, Mark P Purdue, Philip Awadalla

OHS’s cohort profile outlines its research platform’s history and value for the broader scientific community. OHS follows 225,000 over their lifetime, actively and passively, making de-identified genomic, environmental, lifestyle, and electronic health data available to cancer and chronic disease researchers.

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2022

Development and validation of a hypertension risk prediction model and construction of a risk score in a Canadian population

Authors: Mohammad Ziaul Islam Chowdhury, Alexander A Leung, Khokan C Sikdar, Maeve O'Beirne, Hude Quan, Tanvir C Turin

This study evaluates different machine learning algorithms and compares their predictive performance with conventional models to predict hypertension incidence using data from 18,322 Alberta’s Tomorrow Project participants. The study found little difference in predictive performance between the machine learning algorithms and the conventional Cox PH model. The results suggest that conventional regression-based models can perform similarly to machine learning algorithms with good predictive accuracy in a moderate dataset with a reasonable number of features.

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2022

Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors

Authors: Guillermo Carbajosa, Aminah T Ali, Alan Hodgkinson

Researchers created a technique to find and measure specific RNA cutting events among 799 CARTaGENE participants and samples from the GTEx project. They uncovered new sites where RNA is cut during mitochondrial processing and discovered genes linked to these processes, shedding light on how genetic variations might affect mitochondrial functions and health conditions.

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2022

Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis

Authors: Dina Nada, Cédric Julien, Simon Papillon-Cavanagh, Jacek Majewski, Mohamed Elbakry, Wesam Elremaly, Mark E Samuels, Alain Moreau

Researchers aimed to identify rare genetic variations associated with adolescent idiopathic scoliosis (AIS) by examining the DNA of 60 CARTaGENE participants (healthy controls) and individuals from other sources. They found that the FAT3 gene, while not statistically significant on its own, showed an excess of rare genetic changes in AIS patients, and further investigations revealed specific variants within FAT3 that were more common in severe AIS cases compared to milder cases and healthy individuals, suggesting that FAT3 may play a role in the development of AIS.

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2022

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

Authors: Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing-Jian Feng, Stéphane Dubois, Annie-Claude Collin-Deschesnes, Penny Soucy, Maxime Vallée, Frédéric Fournier, Audrey Lemaçon, Muriel A Adank, Jamie Allen, Janine Altmüller, Norbert Arnold, Margreet G E M Ausems, Riccardo Berutti, Manjeet K Bolla, Shelley Bull, Sara Carvalho, Sten Cornelissen, Michael R Dufault, Alison M Dunning, Christoph Engel, Andrea Gehrig, Willemina R R Geurts-Giele, Christian Gieger, Jessica Green, Karl Hackmann, Mohamed Helmy, Julia Hentschel, Frans B L Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Judit Horváth, M Arfan Ikram, Silke Kaulfuß, Renske Keeman, Da Kuang, Craig Luccarini, Wolfgang Maier, John W M Martens, Dieter Niederacher, Peter Nürnberg, Claus-Eric Ott, Annette Peters, Paul D P Pharoah, Alfredo Ramirez, Juliane Ramser, Steffi Riedel-Heller, Gunnar Schmidt, Mitul Shah, Martin Scherer, Antje Stäbler, Tim M Strom, Christian Sutter, Holger Thiele, Christi J van Asperen, Lizet van der Kolk, Rob B van der Luijt, Alexander E Volk, Michael Wagner, Quinten Waisfisz, Qin Wang, Shan Wang-Gohrke, Bernhard H F Weber, Genome Of The Netherlands Project, Ghs Study Group, Peter Devilee, Sean Tavtigian, Gary D Bader, Alfons Meindl, David E Goldgar, Irene L Andrulis, Rita K Schmutzler, Douglas F Easton, Marjanka K Schmidt, Eric Hahnen, Jacques Simard

The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. Using data from 920 CARTaGENE participants and four other sources, the researchers identified 20 novel genes with modest association evidence for overall and subtype-specific breast cancers.

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2022

Arsenic Speciation and Metallomics Profiling of Human Toenails as a Biomarker to Assess Prostate Cancer Cases: Atlantic PATH Cohort Study

Authors: Erin Keltie, Kalli M Hood, Yunsong Cui, Ellen Sweeney, Gabriela Ilie, Anil Adisesh, Trevor Dummer, Veni Bharti, Jong Sung Kim

This study aimed to characterize arsenic species and metallome profiles in toenails and urine samples, compare these profiles between prostate cancer cases and controls, and evaluate the utility of toenail and urine biomarkers. Toenails were found to be viable biomarkers for altered arsenic speciation in prostate cancer cases.

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2022

Associations between neighbourhood street connectivity and sedentary behaviours in Canadian adults: Findings from Alberta’s Tomorrow Project

Authors: Vikram Nichani, Mohammad Javad Koohsari, Koichiro Oka, Tomoki Nakaya, Ai Shibata, Kaori Ishii, Akitomo Yasunaga, Jennifer E Vena, Gavin R McCormack

Researchers aimed to estimate associations between street connectivity, based on space syntax-derived street integration, and sedentary behaviours. Using data from 14,758 Alberta’s Tomorrow Project participants, they found that connectivity was positively related to various measures of sitting time and negatively associated with motor vehicle travel time.

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2022

Developing a Socioeconomic Status Index for Chronic Disease Prevention Research in Canada

Authors: Elham Khodayari Moez, Katerina Maximova, Shannon Sim, Ambikaipakan Senthilselvan, Roman Pabayo

Researchers developed a socioeconomic status (SES) index and assessed its associations with smoking amongst 17,371 Alberta’s Tomorrow Project participants. They found that their index was negatively related to smoking intensity.

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