Publications

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

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

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

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

Comparison of fracture prediction tools in individuals without and with early chronic kidney disease: A population-based analysis of CARTaGENE

Authors: LC Desbiens, A Sidibe, C Beaudoin, S Jean, F Mac-Way

This study analyzed the CARTaGENE cohort to see how patients with chronic kidney disease were affected by bone fractures.

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2020

Association of Glomerular Hyperfiltration and Cardiovascular Risk in Middle-Aged Healthy Individuals

Authors: Marie-Eve Dupuis, Annie-Claire Nadeau-Fredette, Francois Madore, Mohsen Agarazii, Remi Goupil

In this cohort study of 9,515 patients with health information accessed through the CARTaGENE cohort, glomerular hyperfiltration was shown to be associated with increased risk of cardiovascular events in middle-aged healthy individuals. This suggests that glomerular hyperfiltration could be a useful cardiovascular biomarker in this population.

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2020

Reduced Cognitive Assessment Scores Among Individuals With Magnetic Resonance Imaging–Detected Vascular Brain Injury

Authors: Sonia S. Anand, Matthias G. Friedrich, Dipika Desai, Karleen M. Schulze, Philip Awadalla, David Busseuil, Trevor J.B. Dummer, Sébastien Jacquemont, Alexander Dick, David Kelton, Anish Kirpalani, Scott A. Lear, Jonathan Leipsic, Michael D. Noseworthy, Louise Parker, Grace Parraga, Paul Poirier, Paula Robson, Jean-Claude Tardif, Koon Teo, Jennifer Vena, Salim Yusuf, Alan R. Moody, Sandra E. Black, Eric E. Smith,

This study investigated if scores on a cognitive screen were lower in individuals with higher cardiovascular risk, and those with covert vascular brain injury. Among a middle-aged community-dwelling population, scores on a cognitive screen were lower in individuals with higher cardiovascular risk factors or MRI vascular brain injury. Much of the population attributable risk of low cognitive scores can be attributed to lower educational attainment, higher cardiovascular risk factors, and MRI vascular brain injury.

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2020

Impact of updated recommendations on acetylsalicylic acid use for primary prevention of cardiovascular disease in Canada: a population-based survey

Authors: Myriam Khalili, Fanny Lepeytre, Jason Guertin, Remi Goupil, Stephan Troyanov, Josee Bouchard, Francois Madore

This study aimed to evaluate the prevalence and factors associated with ASA use, and the potential impact of implementing the most recent (2016) US Preventive Services Task Force recommendations for primary CVD prevention in a Canadian setting.

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2019

Predictive value of quantitative ultrasound parameters in individuals with chronic kidney disease: A population-based analysis of CARTaGENE.

Authors: Louis-Charles Desbiens, Remi Goupil, Fabrice Mac-Way

This study showed that early decrease in renal function increase calcancela ultrasound parameters, QUS is associated with fracture incidence regardless of renal function, QUS underestimates fracture incidence in patients with early CKD.

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2018

Uric acid association with pulsatile and steady components of central and peripheral blood pressures

Authors: Fanny Lepeytre, Pierre-Luc Lavoie, Stephan Troyanov, Francois Madore, Mohsen Agharazii, Remi Goupil

The objective of this study was to determine if the cardiovascular risk is attributed to elevated uric acid levels may be explained by changes in central/peripheral pulsatile and or steady blood pressure. After doing a multivariate analysis of over 20000 people, they determined that serum uric acid levels appear to be associated with both central/peripheral steady but not plausible BP, regardless of sex.

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2017

Inherited Chromosomally Integrated Human Herpesvirus 6 and Breast Cancer

Authors: Annie Gravel, Isabelle Dubuc, Angela Brooks-Wilson, Kristan Aronson, Jacques Simard, Hector Velasquez-Garcia, John Spinelli, Louis Flamand

There is a condition that affects 1% of the population where iciHHV-6 and they wanted to do know if such a mutation predisposes a person to cancer development. They found there was no statistically significant association between HHV-6 and breast cancer in women.

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