Publications

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

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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2019

Fracture status in middle-aged individuals with early CKD: cross-sectional analysis of the CARTaGENE survey

Authors: L.C. Desbiens, R. Goupil., A. Sidine., F. Madore., F. Mac-Way

In this cross-sectional analysis, the study team determined that CKD was not correlated with increase fractures, was not a modification factor between calcaneal QUS and fracture, but modified the association between clinical, pharmacological parameters and fracture.

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2019

Nuclear genetic regulation of the human mitochondrial transcriptome

Authors: Aminah Ali, Lena Boehme, Guillermo Carbajosa, Vlad Seitan, Kerrin Small, Alan Hodgkinson

They analyzed more than 11000 RNA sequencing libraries across 36 tissue/cell types and they found considerable variation in mitochondrial gene expression along the transcriptome. This was also looked at tissues and inviduals and highlighted the importance of cell-type specific and post transcriptional processes in shaping mitochondrial-encoded RNA levels.

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2019

Harmonization of the Health and Risk Factor Questionnaire data of the Canadian Partnership for Tomorrow Project: a descriptive analysis

Authors: Isabel Fortier, Nataliya Dragieva, Matilda Saliba, Camille Craig, Paula J. Robson

This paper describes how data is harmonized the health and risk factor questionnare and provides an overview of information required to use the core data that has been created. The reason for the harmonization is to have a unique data set including data on health and risk factors from over 307000 Canadians.

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2019

Green space associations with mental health and cognitive function

Authors: Perry Hystad, Yves Payette, Nolwenn Noisel, Catherine Bolieau

This study was done so that they could determine the relationship between mental health and access to green space. They enrolled 8144 people and used questionnares to measure any depression/anxiety. They found that while urban green space affords a lower depression score, it does not affect cognitive function.

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2019

Uromodulin in a Pathway Between Decreased Renal Urate Excretion and Albuminuria

Authors: Alena Krajcoviechova, Francois-Christophe Marois-Blanchet, Stephan Troyanov, Francois Harvey, Pierre Dumas, Johanne Tremblay, Renata Ciftova, Philip Awadalla, Francois Madore, Pavel Hamet

The study team evaluated the impact of candidate variants in the main urate transporter genes, and also they examined the urumodulin/sodium excretion as mediators of the association between FEUA and uACR. Out of the 737 participants, 593 were observed in the final analysis. They found that there was an association between albuminuria with decreased renal urate excretion may be modified by the transporter SLC2A9.

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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

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

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

Genetic and epidemiological characterization of restless legs syndrome in Québec

Authors: Fulya Akçimen, Jay P Ross, Faezeh Sarayloo, Calwing Liao, Rachel De Barros Oliveira, Jennifer A Ruskey, Cynthia V Bourassa, Patrick A Dion, Lan Xiong, Ziv Gan-Or ... Show more

This study aimed to assess these RLS predisposing genetic variants, as well as investigate the epidemiological profile and diagnostic features of individuals with RLS in the Québec population, using an interviewer-administered questionnaire

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