Publications

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

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

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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2020

Prediction of Cardiovascular Events by Type I Central Systolic Blood Pressure

Authors: Florence Lamarche, Mohsen Agharazii, François Madore, Rémi Goupil

This study assessed which of central or brachial blood pressure best predicts cardiovascular risk and identified the central SBP threshold associated with increased risk of future cardiovascular events. It was concluded that central BP measured with a type I device is statistically but likely not clinically superior to brachial BP in a general population without prior cardiovascular disease.

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2020

Diet Quality and Food Prices Modify Associations between Genetic Susceptibility to Obesity and Adiposity Outcomes

Authors: Hannah Yang Han, Catherine Paquet, Laurette Dubé, Daiva E Nielsen

This cross-sectional investigation geo-temporally linked CARTaGENE data with in-store retail food environment data to examine interactions between a polygenic risk score (PRS) for obesity and (1) diet quality (n = 6807) and (2) in-store retail food measures (n = 3718). The outcomes included adiposity-related measures and diet quality assessed using the 2010 Canadian-adapted Healthy Eating Index.

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2019

Fracture status in middle-aged individuals with early CKD: cross-sectional analysis of the CARTaGENE survey

Authors: L.C. Desbiens, R. Goupil., A. Sidine., F. Madore., F. Mac-Way

In this cross-sectional analysis, the study team determined that CKD was not correlated with increase fractures, was not a modification factor between calcaneal QUS and fracture, but modified the association between clinical, pharmacological parameters and fracture.

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2017

Community Engagement in Genetic Research: Results of the First Public Consultation for the Quebec CARTaGENE Project

Authors: B. Godard, J. Marshall, C. Laberge,

This article showed how beneficial CARTaGENE’s data would be, but with the caveat that the confidentiality of the participants must be acknowledged and taken into account.

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2016

Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) – a Pan Canadian cohort study

Authors: Sonia S. Anand, Jack V. Tu, Philip Awadalla, Sandra Black, Catherine Boileau, David Busseuil, Dipika Desai, Jean-Pierre Després, Russell J. de Souza, Trevor Dummer, Sébastien Jacquemont, Bartha Knoppers, Eric Larose, Scott A. Lear, Francois Marcotte, Alan R. Moody, Louise Parker, Paul Poirier, Paula J. Robson, Eric E. Smith, John J. Spinelli, Jean-Claude Tardif, Koon K. Teo, Natasa Tusevljak, Matthias G. Friedrich

Canadian Alliance for Healthy Hearts and Minds (CAHHM) is a pan-Canadian, prospective, multi-ethnic cohort study being conducted in Canada. This project has sed CPTP data to help and assist it. CAHHM is a prospective cohort study which aims to examine the health of adults living in Canada.

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2016

Dietary assessment is a critical element of health research – Perspective from the Partnership for Advancing Nutritional and Dietary Assessment in Canada

Authors: Marie-Ève Labonté, Sharon I. Kirkpatrick, Rhonda C. Bell, Beatrice A. Boucher, Ilona Csizmadi, Anita Koushik, Mary R. L’Abbé, Isabelle Massarelli, Paula J. Robson, Isabelle Rondeau, Bryna Shatenstein, Amy F. Subar, and Benoît Lamarche

This was an opinion based paper which argued that while assessing dietary intakes is difficult, it`s not impossible. They believe that building capacity and funding opportunities should be readily available in order to build research. If they were to have these, there would be better understanding in Canada and elsewhere.

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