Publications

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

2019

Depressive symptoms and sleep problems as risk factors for heart disease: a prospective community study.

Authors: SS Deschenes, R Burns, E. Graham., N. Schmitz.

The goal of this study was to see if there was an association between depressive behavior, sleep problems and risk of developing heart disease in the sample population. Using CARTaGENE data, they were able to determine that depression and sleep disorders are independent factors of heart disease and area associated with a stronger risk of heart disease when occurring together.

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2019

Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing

Authors: Xiaojian Shao, Marie Hudson, Ines Colmegna, Celia Greenwood, Marvin Fritzler, Philip Awadalla, Tomi Pastinen, Sasha Bernatsky

They wanted to compare DNA methylation in subjects postivie/negative for anti-citrullinated protein antibodies which is a key marker for rheumatoid arthritis. They measured the DNA methylation of 137 subjects, 63 who were ACPA-positive, 66 were negative and 8 were self-reported with their rheumatoid arthritis.

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2019

Care quality for rheumatoid arthritis patients in Quebec

Authors: Zeinab Slim, Cristiano Moura, Sasha Bernatsky, Elham Rahme

The main objectives of this study were to determine the number of CARTaGENE participants with rheumatoid arthritis that fulfilled pre-specified quality indicators and to examine the variation in DMARD use with respect to patient age,sex, education, and income. They assessed ~20000 people, and 142 rheumatoid arthritis patients. Quality Indicators that pertained to RA pharmacotheraphy and medical treatment ranged from 60-80%,. With lifestyle factors, 55% had moderate physical activity and less than 17% were reported to be smokers.

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2019

Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements.

Authors: Fiona Allum, Åsa K. Hedman, Xiaojian Shao, Warren A. Cheung, Jinchu Vijay,Frédéric Guénard, Tony Kwan, Marie-Michelle Simon, Bing Ge, Cristiano Moura, Elodie Boulier, Lars Rönnblom, Sasha Bernatsky, Mark Lathrop, Mark I. McCarthy, Panos Deloukas, André Tchernof, Tomi Pastinen, Marie-Claude Vohl, Elin Grundberg

The research team looked up 1) genetic and 2) epigenetic regulation via intergrational studies. The comprehensive sequencing of regulatory elements methylomes reveals lots of information of functional variants linked genetically as well as epigentically to plasma lipid traits.

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2019

Identifying Rheumatoid Arthritis Cases within the Quebec Health Administrative Database

Authors: Zeinab Slim, Cristiano Moura, Sasha Bernatsky, Elham Rahme

The team’s objective was to calculate rheumatoid arthritis point prevalence in the CARTaGENE cohort. They also aimed to estimate sensitivity/specificity. In the study, they were looking at 3 factors: number of years of billing data, addition of self reported information of RA diagnosis and drugs, and adjustment for calculation error. They found that there was a RAMQ sensitivity of 84% and specificity of 99.8%. Their results showed variations in the prevalence point estimates of the 3 factors being assessed.

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2018

The author who wasn’t there? Fairness and attribution in publications following access to population biobanks

Authors: Erika Kleiderman, Amy Pack, Pascal Borry, Ma'n Zawati

This study conducted a document analysis that looked at publication ethics and authorship with population biobanks. In their findings, they reported a 3-step approach: 1) the biobank should be given proper acknowledgement 2) co-authorship should be encouraged to foster colloboration amongst researchers 3) referencing/citiations should be readily available

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2018

Associations Between Depressive Symptoms and Indices of Obesity in Adults With Prediabetes and Normal Blood Glucose Levels: Results From the Emotional Health and Wellbeing Study

Authors: Rachel Burns, Soyna Deschenes, Norbert Schmitz

Depressive symptoms are associated with higher incident rates of dibaetes, but they are not sure if depressive symptoms are linked to prediabetes. The results from this study showed that there was depressive symptoms were positively associated with BMI, fat mass index, waist circumfrence in prediabetic adults. The assoications observed in people with prediabetes were stronger than those observed with normal blood glucose levels.

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2017

Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature

Authors: Christel Dias, Mara Giordano, Rosalie Frenchette, Simonetta Bellone, Constantin Polychronakos, Laurent Legault, Cheri Deal, Cynthia Goodyer

The CARTaGENE cohort looked 168 inviduals with SS, and found 95% were of European Ancestry. These data suggest that the variants identified are potentially genetic markers specifically associated with the ISS phenotype.

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2017

Industrial air emissions, and proximity to major industrial emitters, are associated with anti-citrullinated protein antibodies

Authors: Sasha Bernatsky, Audrey Smargiassi, Lawrence Joseph, Philip Awadalla, Ines Colmega, Marie Hudson, Marvin Fritzler

They assessed the relationships between PM25, SO2, and ACPA which is a marker for RA, they found there was a positive association between ACPA and industrial PM2.5/SO2 emissions. Finally there was a correlation between air pollution from industrial emissions and ACPA suggests a role for these exposures in RA.

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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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