Publications

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

2022

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

Authors: Wei Zhou, Masahiro Kanai, Kuan-Han H Wu, Humaira Rasheed, Kristin Tsuo, Jibril B Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida Surakka, Brooke N Wolford, Valeria Lo Faro, Esteban A Lopera-Maya, Kristi Läll, Marie-Julie Favé, Juulia J Partanen, Sinéad B Chapman, Juha Karjalainen, Mitja Kurki, Mutaamba Maasha, Ben M Brumpton, Sameer Chavan, Tzu-Ting Chen, Michelle Daya, Yi Ding, Yen-Chen A Feng, Lindsay A Guare, Christopher R Gignoux, Sarah E Graham, Whitney E Hornsby, Nathan Ingold, Said I Ismail, Ruth Johnson, Triin Laisk, Kuang Lin, Jun Lv, Iona Y Millwood, Sonia Moreno-Grau, Kisung Nam, Priit Palta, Anita Pandit, Michael H Preuss, Chadi Saad, Shefali Setia-Verma, Unnur Thorsteinsdottir, Jasmina Uzunovic, Anurag Verma, Matthew Zawistowski, Xue Zhong, Nahla Afifi, Kawthar M Al-Dabhani, Asma Al Thani, Yuki Bradford, Archie Campbell, Kristy Crooks, Geertruida H de Bock, Scott M Damrauer, Nicholas J Douville, Sarah Finer, Lars G Fritsche, Eleni Fthenou, Gilberto Gonzalez-Arroyo, Christopher J Griffiths, Yu Guo, Karen A Hunt, Alexander Ioannidis, Nomdo M Jansonius, Takahiro Konuma, Ming Ta Michael Lee, Arturo Lopez-Pineda, Yuta Matsuda, Riccardo E Marioni, Babak Moatamed, Marco A Nava-Aguilar, Kensuke Numakura, Snehal Patil, Nicholas Rafaels, Anne Richmond, Agustin Rojas-Muñoz, Jonathan A Shortt, Peter Straub, Ran Tao, Brett Vanderwerff, Manvi Vernekar, Yogasudha Veturi, Kathleen C Barnes, Marike Boezen, Zhengming Chen, Chia-Yen Chen, Judy Cho, George Davey Smith, Hilary K Finucane, Lude Franke, Eric R Gamazon, Andrea Ganna, Tom R Gaunt, Tian Ge, Hailiang Huang, Jennifer Huffman, Nicholas Katsanis, Jukka T Koskela, Clara Lajonchere, Matthew H Law, Liming Li, Cecilia M Lindgren, Ruth J F Loos, Stuart MacGregor, Koichi Matsuda, Catherine M Olsen, David J Porteous, Jordan A Shavit, Harold Snieder, Tomohiro Takano, Richard C Trembath, Judith M Vonk, David C Whiteman, Stephen J Wicks, Cisca Wijmenga, John Wright, Jie Zheng, Xiang Zhou, Philip Awadalla, Michael Boehnke, Carlos D Bustamante, Nancy J Cox, Segun Fatumo, Daniel H Geschwind, Caroline Hayward, Kristian Hveem, Eimear E Kenny, Seunggeun Lee, Yen-Feng Lin, Hamdi Mbarek, Reedik Mägi, Hilary C Martin, Sarah E Medland, Yukinori Okada, Aarno V Palotie, Bogdan Pasaniuc, Daniel J Rader, Marylyn D Ritchie, Serena Sanna, Jordan W Smoller, Kari Stefansson, David A van Heel, Robin G Walters, Sebastian Zöllner; Biobank of the Americas; Biobank Japan Project; BioMe; BioVU; CanPath - Ontario Health Study; China Kadoorie Biobank Collaborative Group; Colorado Center for Personalized Medicine; deCODE Genetics; Estonian Biobank; FinnGen; Generation Scotland; Genes & Health Research Team; LifeLines; Mass General Brigham Biobank; Michigan Genomics Initiative; National Biobank of Korea; Penn Medicine BioBank; Qatar Biobank; QSkin Sun and Health Study; Taiwan Biobank; HUNT Study; UCLA ATLAS Community Health Initiative; Uganda Genome Resource; UK Biobank; Alicia R Martin, Cristen J Willer, Mark J Daly, Benjamin M Neale

The Global Biobank Meta-analysis Initiative is a collaborative network of 23 biobanks, representing more than 2.2M consented participants with genetic data linked to electronic health records. This collaborative effort will improve genome-wide association studies’ power for diseases, benefit understudied diseases, and improve risk prediction.

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2022

Population-Based Recalibration of the Framingham Risk Score and Pooled Cohort Equations

Authors: Maneesh Sud, Atul Sivaswamy, Anna Chu, Peter C. Austin, Todd J. Anderson, David M.J. Naimark, Michael E. Farkouh, Douglas S. Lee, Idan Roifman, George Thanassoulis, Karen Tu, Jacob A. Udell, Harindra C. Wijeysundera, and Dennis T. Ko

The Framingham Risk Score (FRS) and Pooled Cohort Equations (PCEs) overestimate risk in many contemporary cohorts. This study sought to determine if the recalibration of these scores using contemporary population-level data improves risk stratification for statin therapy.

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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

Negative Association of Smoking History With Clinically Manifest Cardiac Sarcoidosis: A Case-Control Study

Authors: Chenchen Xu, Pablo B Nery, Christiane Wiefels, Rob S Beanlands, Stewart D Spence, Daniel Juneau, Steven Promislow, Kevin Boczar, Robert A deKemp, David H Birnie

Researchers aimed to explore whether smoking was associated with a specific sarcoidosis phenotype, primarily in Caucasian patients with clinically manifest cardiac sarcoidosis (CS). Ontario Health Study participants’ data were used as controls, while the cases came from the Cardiac Sarcoidosis Multi-Center Prospective Cohort Study. They found a strong association between smoking history and clinically manifest CS, but more research is required to understand whether these associations have therapeutic potential.

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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.

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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, Eric E. Smith, the Canadian Alliance of Healthy Hearts and Minds (CAHHM), 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.

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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

Long-term exposure to air pollution and mortality in a prospective cohort: The Ontario Health Study

Authors: Zhang, Z., Wang, J., Kwong, J. C., Burnett, R. T., van Donkelaar, A., Hystad, P., Martin, R. V., Bai, L., McLaughlin, J., & Chen, H.

The researchers investigated the association between long-term exposure to air pollution and mortality using data from 88,615 participants in the Ontario Health Study from 2009 to 2017. They assessed exposure to fine particulate matter (PM2.5) and nitrogen dioxide (NO2) at participants’ residences and analyzed non-accidental, cardiovascular, and respiratory mortality risks using Cox proportional hazard models. Stronger associations were observed among physically active participants, smokers, and individuals with lower household income. These findings suggest that further improvements in air quality may reduce mortality risk, even in regions with low air pollution levels.

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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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