Publications

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

2016

Central blood pressures in early chronic kidney disease: an analysis of CARTaGENE 

Authors: Rémi Goupil, Dominique Dupuis, Mohsen Agharazii, Pavel Hamet, Stéphan Troyanov, François Madore

The research question for this study was whether CKD is associated with high blood pressure. They found that early CKD is not associated with detrimental central hemodynamic parameters.

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2016

Heart rate dependent and independent effects of beta-blockers on central hemodynamic parameters: a propensity score analysis

Authors: Remi Goupil, Dominique Dupuis, Stephan Troyanov, Francois Madore, Mohsen Agharazil

In this article they looked the association between beta-blocker use, heart rate, and central hemodynamics in hypertensive CARTaGENE participants. They looked at 20004 people and determined that there were unfavourable central hemodynamic profile of beta-blocker has both HR-dependent and HR-indepdent components that are similar for all frequency used beta1 selective blocker.

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2015

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Authors: Claire Leblond, Ziv Gan-Or, Dan Spiegelman, Sandra Laurent, Anna Szuto, Alan Hodgkinson, Alexandre Dionne-Laporte, Pierre Provencher, Mamde de Carvalho, Sandro Orru, Denis Brunet, Jean-Pierre Bouchard, Philip Awadalla, Nicholas Dupre, Patrick Dion, Guy Rouleau

In this study, they looked at mutations of MATR3 (gene that is associated with ALS). They assessed the frequency in French Canadian populations and had a control group. They were able to determine which proteins are associated with ALS.

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2015

Association of age-dependent height and bone mineral density decline with increased arterial stiffness and rate of fractures in hypertensive individuals

Authors: Rana EL-Bikai, Muhammad Tahir, Johanne Tremblay, Michel Joffres, Ondřej Šeda, Lucie Šedová, Philip Awadalla, Claude Laberge, Bartha-Maria Knoppers, Pierre Dumas, Daniel Gaudet, Louis-Georges Ste-Marie, Pavel Hamet

They wanted to determine if there was an association with height, arterial stiffness, and bone fractures. They were able to determine at the end of the study that those with shorter statures were more likely to have arterial stiffness and hypertension.

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2013

Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics

Authors: Philip Awadalla, Catherine Boileau, Yves Payette, Youssef Idaghdour, Jean-Philippe Goulet, Bartha Knoppers, Pavel Hamet, Claude Laberge

Over 20 000 participants consented to visiting 1 of 12 assessment sites where detailed health and socio-demographic information, physiological measures and biological samples (blood, serum and urine) were captured for a total of 650 variables. Significant correlations of diseases and chronic conditions are observed across these regions, implicating complex interactions, some of which we describe for major chronic conditions.

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2013

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

Authors: Mark E Samuels , Jacek Majewski, Najmeh Alirezaie, Isabel Fernandez, Ferran Casals, Natalie Patey Hélène Decaluwe, Isabelle Gosselin, Elie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valerie Marchand, Jacques L Michaud Marc-André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Francoise Le Deist, Philip Awadalla, Vincent Raymond,Bruno Maranda

Cogenital Multiple Intestinal Atresia is a fatal disorder that can cause organs to shutdown and obstructions in the small and large intestines. They looked a 5 different families to determine the gene structure and found that TTC7A is likely a causal gene for MIA.

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