Publications

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

2016

A haplotype-based normalization technique for the analysis and detection of allele specific expression

Authors: Alan Hodgkinson, Jean-Christophe Grenier, Elias Gbeha, Philip Awadalla

The research team examined allele specific expression which can be an identifier for disease loci. They were able to sequence exomes from CARTaGENE cohort and find a significant association between the proportion of sites undergoing ASE within the genome and smoking.

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2016

Prediabetes, depressive and anxiety symptoms, and risk of type 2 diabetes: A community-based cohort study

Authors: Sonya Deschenes, Rachel Burns, Eva Graham, Norbert Schimitz

This study looked at the effect of prediabetes/depression on a diabetes risk. It seemed that prediabetes/depression interacted and resulted in a diabetes increase. Depression has doubled the risk of prediabetes progressing into full on diabetes. Anxiety has also heightned the risk of prediabetes turning into diabetes.

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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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2016

Impact of the X Chromosome and sex on regulatory variation

Authors: Kimberly Kukurba, Princy Parsana, Brunilda Balliu, Kevin Smith, Zachary Zappala, David Knowles, Marie-Julie Fave, Joe Davis, Xin Li, Xiaowei Zhu, James Potash, Myrna Weissman, Jianxin Shi, Anshul Kundaje, Douglas Levinson, Philip Awadalla, Sara Mostafavi, Alexis Battle, and Stephen Montgomery

The research team analyzed blood transcriptomes of 922 individuals and they were able to conduct the first large-scale genome wide analysis of sex/genetic variation patterns. They generated chromatin and were able to develop genome-wide insight into how genetic variation shape human gene regulation and disease.

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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

Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia

Authors: Nancy Merner, Adriana Mercado, Arjun Khanna, Alan Hodgkinson, Vanessa Bruat, Philip Awadalla, Gerardo Gamba, Guy Rouleau, Kristopher Kahle

This study used encoding genetics to determine the relationship of schizophrenia

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2016

Depression and risk of type 2 diabetes: the potential role of metabolic factors

Authors: N. Schmitz, SS Deschenes, RJ Burns, J. Smith, A. Lesage, I. Strychar, R. Rabasa-Lhoret, C. Frieitas, E. Graham, P. Awadalla, JL Wang

This study looked at the interaction between depressive symptoms and metabolic dysregulations as risk factors for type II diabetes. The study found depressive symptoms and disruptions in metabolic regulation can lead to risk of type two diabetes.

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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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2016

Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion.

Authors: Stephan Troyanov, Catherine Delmas-Frenette, Guillaume Bollee, Sonia Youhanna, Vanessa Bruat, Philip Awadalla, Olivier Devuyst, Francois Madore

This study observed excretion of uromodulin and variations in the UMOD gene. Those with higher levels of uromodulin also had higher levels of uric acid, sodium in their bodies

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