Publications

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

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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2022

Association of essential tremor with novel risk loci: A genome-wide association study and meta-analysis

Authors: Calwing Liao, Charles-Etienne Castonguay, Karl Heilbron, Veikko Vuokila, Miranda Medeiros, Gabrielle Houle, Fulya Akçimen, Jay P. Ross, Helene Catoire, Monica Diez-Fairen, Jooeun Kang, Stefanie H. Mueller, Simon L. Girard, Franziska Hopfner, Delia Lorenz, Lorraine N. Clark, Alexandra I. Soto-Beasley, Stephan Klebe, Mark Hallett, Zbigniew K. Wszolek, Manuela Pendziwiat, Oswaldo Lorenzo-Betancor, Klaus Seppi, Daniela Berg, Carles Vilariño-Güell, Ronald B. Postuma, Geneviève Bernard, Nicolas Dupré, Joseph Jankovic, Claudia M. Testa, Owen A. Ross, Thomas Arzberger, Sylvain Chouinard, Elan D. Louis, Paola Mandich, Carmine Vitale, Paolo Barone, Elena García-Martín, Hortensia Alonso-Navarro, José A. G. Agúndez, Félix Javier Jiménez-Jiménez, Pau Pastor, Alex Rajput, Günther Deuschl, Gregor Kuhlenbaümer, Inge A. Meijer, Patrick A. Dion, Guy A. Rouleau, for the 23andMe Research Team

This study revealed five genome-wide significant loci associated with essential tremor (ET), one of the most common movement disorders. The researchers’ findings suggest that common genetic variation partly explains ET’s heritability.

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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

Estimated prevalence of Niemann–Pick type C disease in Quebec

Authors: Marjorie Labrecque, Lahoud Touma, Claude Bhérer, Antoine Duquette & Martine Tétreault

Researchers sought to estimate the prevalence of Niemann-Pick type C disease – an autosomal recessive disease that often results in psychiatric problems in adults – in Québec and determine whether it is underdiagnosed in this province. With CARTaGENE RNA-sequencing data from 911 participants and exome sequencing from 198 participants, researchers estimated the prevalence as 0.61 in 100,000 births.

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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

Common variants in the CD36 gene are associated with dietary fat intake, high-fat food consumption and serum triglycerides in a cohort of Quebec adults

Authors: Tongzhu Meng, Stan Kubow, Daiva E. Nielsen

This study found that CD36 variants are associated with habitual fat consumption, which may play a role in subsequent associations with chronic-disease biomarkers. Associations differ by BMI status and dietary fat type.

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2021

Predictors of long-term use of prescription opioids in the community-dwelling population of adults without a cancer diagnosis: a retrospective cohort study

Authors: Audrey Béliveau, Anne-Marie Castilloux, Cara Tannenbaum, Philippe Vincent, Cristiano Soares de Moura, Sasha Bernatsky, Yola Moride

This study aimed to identify risk factors for and predictors of long-term use of prescription opioids in the community-dwelling population of adults without a diagnosis of cancer, to inform practice change at the point of care. It was found that limiting the initial supply to no more than 7 days and limiting doses to 90 MME/day or less are actions that could be undertaken at the point of care to prevent long-term use.

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2021

Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer

Authors: Islam Elkholi, Massimo Di Iorio, Somayyeh Fahiminiya, Suzanna Arcand, HyeRim Han, Clara Nogué, Supriya Behl, Nancy Hamel, Sylvie Giroux, Manon de Ladurantaye, Olga Aleynikova, Walter Gotlieb, Jean-François Côté, François Rousseau, Patricia Tonin, Diane Provencher, Anne-Marie MesMasson, Mohammad Akbari, Barbara Rivera, William Foulkes

This study investigated if MRE11A is a true predisposition gene for hereditary breast and ovarian cancer. Investigations suggested that the identified variant is not associated with an increased risk of developing breast or ovarian cancer, and suggests a lack of clinical utility of MRE11A testing in HBOC, at least in the White/Caucasian populations.

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2021

Associations between cognitive function, metabolic factors and depression: A prospective study in Quebec, Canada

Authors: Floriana Ferri, Sonya Dechenes, Niamh Power, Norbert Schmitz

The study used baseline and follow-up CARTaGENE data to assess the potential interactions between low cognitive function, metabolic risk factors and history of depression as risk factors for future depressive episodes. Participants with a comorbidity of at least one metabolic factor, history of depression and low cognitive function were found to have the highest risk of experiencing a depressive episode in middle age.

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2021

Agreement in the CARTaGENE cohort between self-reported medication use and claim data

Authors: Cristiano Moura, Yves Payette, Catherine Boileau, Michal Abrahamowicz, Louise Pilote, Sasha Bernatsky

The research team investigated the agreement of self-reported medication use in CARTaGENE baseline data with provincial health insurance records. Overall, there was a reasonable agreement between the two data sources, but important variations were found for the different drug classes.

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