Publications

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

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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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

Comparison of the Effect of Thiazide Diuretics and Other Antihypertensive Drugs on Central Blood Pressure: Cross‐Sectional Analysis Among Nondiabetic Patients

Authors: Cristiano S. Moura, Stella S. Daskalopoulou, Linda E. Levesque, Sasha Bernatsky, Michal Abrahamowicz, Meytal A. Tsadok, Shadi Rajabi, Louise Pilote

This study used CARTaGENE data to determine to assess the noninferority of TDs relative to different classes of antihypertensive medications in relation to central blood pressure. No major differences were noted and it was shown that TDs are at least as effective as other first line medications that are available.

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2015

Inherited chromosomally integrated human herpesvirus 6 as a predisposing risk factor for the development of angina pectoris

Authors: Annie Gravel, Isabelle Dubuc, Guillaum Morissette, Ruth Sedlak, Keith Jerome, Louis Flamand

It was found that in a study of 20,000 people our results showed that the prevalence of angina was 3 times more in iciHHV-6+ people than those who did not have a copy of the virus. It also showed that iciHHV-6+ may contribute to the development of angina.

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2015

Recombination affects accumulation of damaging and disease-associated mutations in human populations

Authors: Julie G Hussin, Alan Hodgkinson, Youssef Idaghdour, Jean-Christophe Grenier, Jean-Philippe Goulet, Elias Gbeha, Elodie Hip-Ki & Philip Awadalla

Using high-coverage sequencing data from over 1,400 individuals in the 1000 Genomes and CARTaGENE projects, we show that recombination rate modulates the distribution of putatively deleterious variants across the entire human genome.

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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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2014

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

Authors: Kristopher Kahle, Nancy Merner, Perrine Friedel, Liliya Silayeva, Bo Liang, Arjun Khanna, Yuze Shang, Pamela LaChance-Touchette, Cynthia Bourassa, Annie Levert, Patrick Dion, Brian Walcott, Dan Spiegelman, Alexandre Dionne-Laporte, Alan Hodgkinson, Philip Awadalla, Hamid Nikbakht, Jacek Majewski, Patrick Cossette, Tarek Deeb, Stephen Moss, Igor Medina, Guy Rouleau

These data describe a novel KCC2 variant significantly associated with a human disease and suggest genetically encoded impairment of KCC2 functional regulation may be a risk factor for the development of human IGE.

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2014

High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation

Authors: Alan Hodgkinson, Youssef Idaghdour, Elias Gbeha, Jean-Christophe Grenier, Eloide Hip-Ki, Vanessa Bruat, Jean-Philippe Goulet, Thibault de Malliard, Philip Awadalla

The researchers sequenced ~1000 individuals mitochondrial RNA and a significant variation of sequences that show patterns of posttranscriptional modication. CARTaGENE samples were used to identify this information.

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2014

Prevalence, Awareness, and Management of CKD and Cardiovascular Risk Factors in Publicly Funded Health Care

Authors: Jacobien C. Verhave, Stéphan Troyanov, Frédéric Mongeau, Lorraine Fradette, Josée Bouchard, Philip Awadalla and François Madore

The CARTaGENE study evaluated BP, lipid, and diabetes profiles as well as various treatments over 20,000 random individuals between ages 40-69. Many patiens were not aware of their health conditions or how best to achieve their targets to achieve better health. Study concluded that self-awareness is quite low.

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2013

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

Authors: Ferran Casals ,Alan Hodgkinson ,Julie Hussin,Youssef Idaghdour,Vanessa Bruat,Thibault de Maillard,Jean-Cristophe Grenier,Elias Gbeha,Fadi F. Hamdan,Simon Girard,Jean-François Spinella,Mathieu Larivière,Virginie Saillour,Philip Awadalla

This study indicated that French populations contain a larger proportion of putatively damaging functional variants which could explain incidence of genetic disease in the province. There is a need for deep cataloguing of genetic variants by rescheduling worldwide human populations in order to truly assess disease risk.

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