Publications

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

2023

Subclinical primary aldosteronism and cardiovascular health: a population-based cohort study

Authors: Gregory L Hundemer, Mohsen Agharazii, François Madore, Anand Vaidya, Jenifer M Brown, Alexander A Leung, Gregory A Kline, Eric Larose, Marie-Eve Piché, Andrew M Crean, Julie L V Shaw, Tim Ramsay, Bernhard Hametner, Siegfried Wassertheurer, Manish M Sood, Swapnil Hiremath, Marcel Ruzicka, Rémi Goupil

This study explores the impact of subclinical primary aldosteronism, a less recognized form of hypertension characterized by renin-independent aldosterone production, on cardiovascular health. With data from 1284 CARTaGENE participants, researchers found that a higher aldosterone-to-renin ratio, indicative of this condition, was associated with increased arterial stiffness, adverse cardiac remodeling, and higher odds of developing hypertension, independent of traditional blood pressure measures.

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2023

Relationship between diet quality and antihypertensive medication intensity among adults with metabolic syndrome-associated high blood pressure

Authors: Lise Leblay, Amélie Bélanger, Clémence Desjardins, Mathieu Filiatrault, Jean-Sébastien Paquette, Jean-Philippe Drouin-Chartier

This study aimed to investigate whether there’s a relationship between diet quality and the intensity of medication used to manage high blood pressure in adults with metabolic syndrome (MetS). Using data from 915 CARTaGENE participants with MetS-associated high blood pressure, of whom 677 were using blood pressure-lowering medication, researchers found that, overall, there wasn’t a clear link between diet quality and medication intensity. However, in younger individuals and those with a lower risk for cardiovascular disease, better diet quality was associated with lower medication intensity.

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2023

Relationship between diet quality and statin use among adults with metabolic syndrome from the CARTaGENE cohort.

Authors: Amélie Bélanger, Clémence Desjardins, Lise Leblay, Mathieu Filiatrault, Olivier Barbier, Anne Gangloff, Jacinthe Leclerc, Jean Lefebvre, Arsène Zongo, Jean-Philippe Drouin-Chartier

This study investigated how the use of statins, a type of cholesterol-lowering medication, impacts diet quality in adults with metabolic syndrome (MetS) who are free of cardiovascular disease (CVD). Using data from 2481 CARTaGENE participants, researchers revealed that adults using statins tended to have slightly lower diet quality, particularly characterized by reduced consumption of vegetables and whole grains. This effect was more pronounced in older individuals and those with lower incomes or a history of high blood pressure.

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2023

Relationship between diet quality and glucose-lowering medication intensity among adults with type 2 diabetes: results from the CARTaGENE cohort

Authors: Clémence Desjardins, Lise Leblay, Amélie Bélanger, Mathieu Filiatrault, Olivier Barbier, Line Guénette, Jacinthe Leclerc, Jean Lefebvre, Arsène Zongo, Jean-Philippe Drouin-Chartier

This study aimed to understand if there’s a relationship between diet quality and the amount of medication used to manage blood sugar levels in adults with type 2 diabetes. Using data from 352 CARTaGENE participants, the researchers found no clear link between diet quality and medication intensity. In younger adults, better diet quality was associated with lower medication intensity, so there may be importance of diet in managing diabetes in young adults.

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2023

Impact of successive office blood pressure measurements during a single visit on cardiovascular risk prediction: analysis of CARTaGENE

Authors: Louis-Charles Desbiens, Annie-Claire Nadeau-Fredette, François Madore, Mohsen Agharazii, Rémi Goupil

The researchers sought to assess the long-term impact of multiple office blood pressure (BP) readings and whether they improve cardiovascular risk prediction. Using data from CARTaGENE participants, they found that cardiovascular risk prediction is improved by successive office systolic BP values, especially when the first reading is discarded. These findings reinforce the necessity of using multiple office BP readings.

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2022

Prediction of Cardiovascular Events by Pulse Waveform Parameters: Analysis of CARTaGENE

Authors: Louis-Charles Desbiens, Catherine Fortier, Annie-Claire Nadeau-Fredette, François Madore, Bernhard Hametner, Siegfried Wassertheurer, Mohsen Agharazii, Rémi Goupil

Researchers conducted the largest study to date evaluating non-invasive pulse waveform parameters’ association with cardiovascular events. By adding two waveform parameters to the existing atherosclerotic cardiovascular disease score, they improved cardiovascular prediction and reclassified up to 5.7% of patients in another risk category.

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2022

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

Authors: Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing-Jian Feng, Stéphane Dubois, Annie-Claude Collin-Deschesnes, Penny Soucy, Maxime Vallée, Frédéric Fournier, Audrey Lemaçon, Muriel A Adank, Jamie Allen, Janine Altmüller, Norbert Arnold, Margreet G E M Ausems, Riccardo Berutti, Manjeet K Bolla, Shelley Bull, Sara Carvalho, Sten Cornelissen, Michael R Dufault, Alison M Dunning, Christoph Engel, Andrea Gehrig, Willemina R R Geurts-Giele, Christian Gieger, Jessica Green, Karl Hackmann, Mohamed Helmy, Julia Hentschel, Frans B L Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Judit Horváth, M Arfan Ikram, Silke Kaulfuß, Renske Keeman, Da Kuang, Craig Luccarini, Wolfgang Maier, John W M Martens, Dieter Niederacher, Peter Nürnberg, Claus-Eric Ott, Annette Peters, Paul D P Pharoah, Alfredo Ramirez, Juliane Ramser, Steffi Riedel-Heller, Gunnar Schmidt, Mitul Shah, Martin Scherer, Antje Stäbler, Tim M Strom, Christian Sutter, Holger Thiele, Christi J van Asperen, Lizet van der Kolk, Rob B van der Luijt, Alexander E Volk, Michael Wagner, Quinten Waisfisz, Qin Wang, Shan Wang-Gohrke, Bernhard H F Weber, Genome Of The Netherlands Project, Ghs Study Group, Peter Devilee, Sean Tavtigian, Gary D Bader, Alfons Meindl, David E Goldgar, Irene L Andrulis, Rita K Schmutzler, Douglas F Easton, Marjanka K Schmidt, Eric Hahnen, Jacques Simard

The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. Using data from 920 CARTaGENE participants and four other sources, the researchers identified 20 novel genes with modest association evidence for overall and subtype-specific breast cancers.

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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

FGF23-Klotho axis and fractures in patients without and with early CKD: A case-cohort analysis of CARTaGENE

Authors: Louis-Charles Desbiens, Aboubacar Sidibé, Roth-Visal Ung, Fabrice Mac-Way

Researchers sought to assess the relationship between fibroblast growth factor-23 (FGF-23) and fractures, especially in chronic kidney disease (CKD). With data and biological samples from 312 CARTaGENE participants (153 with CKD), they found that c-terminal FGF-23 (cFGF-23) greatly reduced the relationship between CKD status and fractures.

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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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