Publications

Les publications qui suivent sont des exemples de recherches rendues possibles grâce aux données de CanPath et de ses cohortes régionales.

2024

Sex-Specific Associations of Aldosterone and Renin with Body Composition: A Population-Based Cohort Study

Auteurs : G. L. Hundemer, M. Agharazii, F. Madore, M.-E. Piché, C. Gagnon, A. Bussières, M. St-Jean, A. A. Leung, G. A. Kline, M. M. Sood, D. Burger, T. Ramsay, R. Goupil

The researchers investigated the associations of aldosterone and renin with body composition according to sex in a population-based cohort. Using data from 3,687 adults aged 40-69 years enrolled in the CARTaGENE study, they found that among males, higher aldosterone and renin levels were linked to increased waist to hip ratio, increased fat mass, and decreased lean and muscle mass, while aldosterone specifically was also associated with increased ectopic cardiac adiposity. In contrast, among females higher renin, but not aldosterone, was associated with increased waist circumference, increased waist-to-hip ratio, and increased cardiac adiposity. Higher renin and aldosterone were associated with increased fat mass but were not associated with lean body mass or muscle mass.

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2024

Addressing dispersion in mis-measured multivariate binomial outcomes: A novel statistical approach for detecting differentially methylated regions in bisulfite sequencing data

Auteurs : K. Zhao, K. Oualkacha, Y. Zeng, C. Shen, K. Klein, et al.

The researchers investigated the association between DNA methylation and levels of anti-citrullinated protein antibodies (ACPA), a preclinical marker for rheumatoid arthritis (RA) risk, using asymptomatic samples from the CARTaGENE cohort. Through targeted custom capture sequencing of whole blood, their analysis identified 23 significant genes potentially contributing to ACPA-related differential methylation. These findings emphasize the roles of cell signaling and collagen metabolism in RA.

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2024

Polygenic inheritance and its interplay with smoking history in predicting lung cancer diagnosis: a French-Canadian casecontrol cohort

Auteurs : Véronique Boumtje, Hasanga D. Manikpurage, Zhonglin Li, Nathalie Gaudreault, Victoria Saavedra Armero, Dominique K. Boudreau, Sébastien Renaut, Cyndi Henry, Christine Racine, Aida Eslami, Stéphanie Bougeard, Evelyne Vigneau, Mathieu Morissette, Benoit J. Arsenault, Catherine Labbé, Anne-Sophie Laliberté, Simon Martel, François Maltais, Christian Couture, Patrice Desmeules, Patrick Mathieu, Sébastien Thériault, Philippe Joubert, Yohan Bossé

The researchers equipped a case-control dataset, consisting of 4002 lung cancer cases from the LORD project and 20,010 ethnically matched controls from the CARTaGENE cohort. The researchers aimed to generate a genome-wide polygenic risk score for lung cancer to improve risk prediction and delineate individuals at high genetic risk of lung cancer for earlier detection and prevention.

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2023

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

Auteurs : 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

Auteurs : 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.

Auteurs : 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

Auteurs : 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

Auteurs : 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

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

Les chercheurs ont mené la plus grande étude à ce jour visant à évaluer le lien entre des paramètres non invasifs de formes d’ondes de pouls et des événements cardiovasculaires. En ajoutant deux paramètres de formes d’ondes au score existant de maladie cardiovasculaire athérosclérotique, ils ont amélioré la prédiction cardiovasculaire et reclassé jusqu’à 5,7 % des patients dans une autre catégorie de risque.

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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

Auteurs : 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

L’objectif de cette étude était de réaliser une étude de séquençage de l’exome entier à grande échelle, suivie d’une validation ciblée, chez des patientes atteintes d’un cancer du sein et des femmes en bonne santé d’origine européenne. En utilisant les données de 920 participants à CARTaGENE et de quatre autres sources, les chercheurs ont identifié 20 nouveaux gènes avec des preuves d’association modestes pour les cancers du sein globaux et spécifiques à un sous-type.

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