Publications

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

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

Recombination affects allele-specific expression of deleterious variants in human populations

Authors: Michelle P Harwood, Isabel Alves, Hilary Edgington, Mawusse Agbessi, Vanessa Bruat, David Soave, Fabien C Lamaze, Marie-Julie Favé, Philip Awadalla

This study investigates how changes in the genetic makeup of a population, influenced by random genetic drift and selective forces, impact the variation in observable traits over time. The researchers found that specific factors like recombination rates and population size affect patterns of allele-specific gene expression, with regions of high recombination showing a higher efficiency in using this mechanism to suppress harmful genetic variations.

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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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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

The association between mental health and shift work: Findings from the Atlantic PATH study

Authors: Ellen Sweeney, Yunsong Cui, Zhijie Michael Yu, Trevor J. B. Dummer, Vanessa DeClercq, Cynthia Forbes, Scott A. Grandy, Melanie R. Keats, Anil Adisesh

Researchers studied the relationship between mental health and shift work amongst 12,413 Atlantic PATH participants, including 4,155 shift workers and 8,258 non-shift workers. They found that shift workers were more likely to have increased rates of depression and poor self-rated health, as well as depressive and anxiety symptom scores compared to non-shift workers.

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