Publications

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

2019

Predictive value of quantitative ultrasound parameters in individuals with chronic kidney disease: A population-based analysis of CARTaGENE.

Authors: Louis-Charles Desbiens, Remi Goupil, Fabrice Mac-Way

This study showed that early decrease in renal function increase calcancela ultrasound parameters, QUS is associated with fracture incidence regardless of renal function, QUS underestimates fracture incidence in patients with early CKD.

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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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2019

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Authors: Stavros Glentis,Alexandros C. Dimopoulos, Konstantinos Rouskas, George Ntritsos, Evangelos Evangelou, Steven A. Narod, Anne-Marie Mes-Masson, William D. Foulkes, Barbara Rivera, Patricia N. Tonin, Jiannis Ragoussis, and Antigone S. Dimas

This study used CARTaGENE control data to find there relationship between the BRAC1-2 genes and breast cancer

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2019

Cardiovascular risk scoring and magnetic resonance imaging detected subclinical cerebrovascular disease

Authors: Sonia S Anand, Jack V Tu, Dipika Desai, Phillip Awadalla, Paula Robson, Sébastien Jacquemont, Trevor Dummer, Nhu Le, Louise Parker, Paul Poirier, Koon Teo, Scott A Lear, Salim Yusuf, Jean-Claude Tardif, Francois Marcotte, David Busseuil, Jean-Pierre Després, Sandra E Black, Anish Kirpalani, Grace Parraga, Michael D Noseworthy, Alexander Dick, Jonathan Leipsic, David Kelton, Jennifer Vena, Melissa Thomas, Karleen M Schulze, Eric Larose, Alan R Moody, Eric E Smith, Matthias G Friedrich on behalf of the Canadian Alliance for Healthy Hearts and Minds Cohort

This study aimed to determine if simple cardiac risk scores are associated with certain MRI-deected subclinical cerebrovascular diseases. They found that the risk scores are significantly related with carotid wall volume, carotid intraplaque haemorrhage, and silent brain infarction amongst adults without known clinical cardiovascular disease.

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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

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

The Establishment of the Household Air Pollution Consortium (HAPCO)

Authors: H. Dean Hosgood, Madelyn Klugman, Keitaro Matuso, Alexandra White, Atusko Sadakane, Xiao-Ou Shu, Ruy Lopez-Ridaura, Aesun Shin, Ichiro Tsuji, Reza Malekzadeh, Nolwenn Noisel, Parveen Bhatti, Gong Yang, Eiko Saito, Shaifuir Rahman, Wei hu, Bryan Bassig, George Downward, Roel Vemeulen, Xiaonan Xue, Thomas Rohan, Sarah Abe, Philippe Broet, Eric Grant, Trevor Dummer, Nat Rothman, Manami Inoue, Martin Lajouis, Keun-Young Yoo, Hidemi Ito, Dale Sandler, Habib Ashan, Wei Zheung, Paolo Boffetta, Qing Lan

This article looked at some of the dangers surrounding household air pollution and and it’s association with lung cancer. The Household Air Pollution Consortium will make sure that there is research being done to address public health concerns associated with HAP.

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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

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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