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

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

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

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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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

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.

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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 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

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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