Publications

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

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

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

Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control

Authors: Johanne Tremblay, Mounsif Haloui, Redha Attaoua, Ramzan Tahir, Camil Hishmih, François Harvey, François-Christophe Marois-Blanchet, Carole Long, Paul Simon, Lara Santucci, Candan Hizel, John Chalmers, Michel Marre, Stephen Harrap, Renata Cífková, Alena Krajčoviechová, David R. Matthews, Bryan Williams, Neil Poulter, Sophia Zoungas, Stephen Colagiuri, Giuseppe Mancia, Diederick E. Grobbee, Anthony Rodgers, Liusheng Liu, Mawussé Agbessi, Vanessa Bruat, Marie-Julie Favé, Michelle P. Harwood, Philip Awadalla, Mark Woodward, Julie G. Hussin & Pavel Hamet

This study assessed whether cardiovascular and renal risk factors combined with the age of onset and duration of diabetes are sufficient predictors of type 2 diabetes. Of the 21,702 participants, 488 participants with type 2 diabetes originated from CanPath. The researchers developed a prediction model to help identify high-risk individuals who could benefit from therapies and treatments.

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2021

Normal sex and age-specific parameters in a multi-ethnic population: a cardiovascular magnetic resonance study of the Canadian Alliance for Healthy Hearts and Minds cohort

Authors: Judy M. Luu, Catherine Gebhard, Chinthanie Ramasundarahettige, Dipika Desai, Karleen Schulze, Francois Marcotte, Philip Awadalla, Philippe Broet, Trevor Dummer, Jason Hicks, Eric Larose, Alan Moody, Eric E. Smith, Jean-Claude Tardif, Tiago Teixeira, Koon K. Teo, Jennifer Vena, Douglas S. Lee, Sonia S. Anand, Matthias G. Friedrich

Researchers sought to create a robust, reference value set for cardiovascular magnetic resonance (CMR) parameters, and understand their relationship with age and sex in people without cardiovascular disease (CVD) history or risk factors. They were able to uncover a significant influence of sex and age on these parameters for use in clinical evaluations of CVD.

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2020

Diabetes, Brain Infarcts, Cognition and Small Vessels in the Canadian Alliance for Healthy Hearts and Minds Study

Authors: Hertzel Gerstein, Eric Smith, Chinthanie Ramasundarahettige, Dipika Desai, Philip Awadalla, Philippe Broet, Sandra Black, Trevor Dummer, Jason Hicks, Alan Moody, Jean-Claude Tardif, Koon Teo, Jennifer Vena, Salim Yusuf, Douglas Lee, Matthias Friedrich, Sonia Anand

The CAHHM study collected brain and carotid magnetic resonance imaging (MRI) and two cognitive tests (DSST and MoCA) in a cross-sectional sample of 7,733 men and women. It was concluded that small vessel disease characterizes much of the relationship between diabetes and vascular brain injury. However, additional factors are required to disentangle the relationship between diabetes and cognitive impairment.

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2020

Long-term exposure to a mixture of industrial SO 2, NO 2, and PM 2.5 and anti-citrullinated protein antibody positivity

Authors: Naizhou Zhao, Audrey Smagiassi, Marianne Hatzopoulou, Ines Colmegna, Marie Hudson, Marvin Fritzler, Philip Awadalla, Sasha Bernatsky

The research team looked at exposures to SO2, NO2, and fine particles matter on anti-citrullinated protein antibodies, a characteristic biomarker for rheumatoid arthritis (RA). It was found that there was a positive correlation between ACPA and industrial emissions of PM2.5 and SO2.

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2017

Industrial air emissions, and proximity to major industrial emitters, are associated with anti-citrullinated protein antibodies

Authors: Sasha Bernatsky, Audrey Smargiassi, Lawrence Joseph, Philip Awadalla, Ines Colmega, Marie Hudson, Marvin Fritzler

They assessed the relationships between PM25, SO2, and ACPA which is a marker for RA, they found there was a positive association between ACPA and industrial PM2.5/SO2 emissions. Finally there was a correlation between air pollution from industrial emissions and ACPA suggests a role for these exposures in RA.

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2016

A haplotype-based normalization technique for the analysis and detection of allele specific expression

Authors: Alan Hodgkinson, Jean-Christophe Grenier, Elias Gbeha, Philip Awadalla

The research team examined allele specific expression which can be an identifier for disease loci. They were able to sequence exomes from CARTaGENE cohort and find a significant association between the proportion of sites undergoing ASE within the genome and smoking.

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2016

Maelstrom Research guidelines for rigorous retrospective data harmonization

Authors: Isabel Fortier, Parminder Raina, Edwin R Van den Heuvel, Lauren E Griffith, Camille Craig, Matilda Saliba, Dany Doiron, Ronald P Stolk, Bartha M Knoppers, Vincent Ferretti, Peter Granda, Paul Burton

This article looked at the best ways to do data harmonization. By adhering to the proposed guidelines, the researchers sought to find the best way getting clean data. They found that by adhering to the guidelines, data harmonization can be easier to undertake.

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