Publications

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

2020

Long-term exposure to a mixture of industrial SO 2, NO 2, and PM 2.5 and anti-citrullinated protein antibody positivity

Authors: Naizhou Zhao, Audrey Smagiassi, Marianne Hatzopoulou, Ines Colmegna, Marie Hudson, Marvin Fritzler, Philip Awadalla, Sasha Bernatsky

The research team looked at exposures to SO2, NO2, and fine particles matter on anti-citrullinated protein antibodies, a characteristic biomarker for rheumatoid arthritis (RA). It was found that there was a positive correlation between ACPA and industrial emissions of PM2.5 and SO2.

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2020

Association between depressive symptoms, metabolic risk factors, and cognitive function: cross-sectional results from a community study in Quebec, Canada

Authors: Floriana Ferri, Sonya Deschenes, Niamh Power, Nobert Schmitz

This study investigated the cross-sectional association between depressive symptoms and metabolic risk factors with cognitive function in a middle-aged population. They found that comorbidity of depressive symptoms and MetD was associated with reduced cognitive performance in middle-aged adults without diabetes.

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2020

The association between job strain, depressive symptoms, and cardiovascular disease risk: results from a cross-sectional population-based study in Québec, Canada

Authors: Niamh Power, Sonya Deschenes, Floriana, Norbert Schmitz

This study investigated whether there is an association between job strain and cardiovascular disease risk score, when depressive symptoms are controlled for. The results suggest that the job strain is associated with CVD risk score and that this association is not explained by depressive symptoms. Similar associations were observed for males and females.

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2020

Comparison of fracture prediction tools in individuals without and with early chronic kidney disease: A population-based analysis of CARTaGENE

Authors: LC Desbiens, A Sidibe, C Beaudoin, S Jean, F Mac-Way

This study analyzed the CARTaGENE cohort to see how patients with chronic kidney disease were affected by bone fractures.

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2020

Quantifying the Predictive Accuracy of a Polygenic Risk Score for Predicting Incident Cancer Cases: Application to the CARTaGENE Cohort

Authors: Julianne Duhaze, Rodolpje Jantzen, Yves Payette, Thibault De Malliard, Catherine Labbe, Nolwenn Noisel, Philippe Broet

This study evaluated the 5-year predictivity of an 18-single nucleotide polymorphism PRS for incident breast cancer cases in the CARTaGENE cohort using pseudo R^2 indices. It concluded that the proposed pseudo-R^2 is easy to implement and well suited to evaluate PRS for predicting incident events in cohort studies.

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2020

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls

Authors: Supriya Behl, Nancy Hamel, Manon de Laduarantaye, Stephanie Lepage, Rejean LaPointe, Anne-Marie Mes-Massson, William Foulkes

The purpose of this study was to evaluate the efficacy of genetic testing for these variants of the BRCA gene in Montreal French Canadians. A total of 555 breast cancer cases unselected for family history or age of diagnosis were genotyped, along with 1940 controls without a personal or family history of cancer. Almost 10% of the early onset cases of BC were heterozygous for founder BRCA1 or BRCA2. 7 of the 20 variants of the breast cancer gene tested for were found in this study.

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2020

Association of Glomerular Hyperfiltration and Cardiovascular Risk in Middle-Aged Healthy Individuals

Authors: Marie-Eve Dupuis, Annie-Claire Nadeau-Fredette, Francois Madore, Mohsen Agarazii, Remi Goupil

In this cohort study of 9,515 patients with health information accessed through the CARTaGENE cohort, glomerular hyperfiltration was shown to be associated with increased risk of cardiovascular events in middle-aged healthy individuals. This suggests that glomerular hyperfiltration could be a useful cardiovascular biomarker in this population.

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2020

Reduced Cognitive Assessment Scores Among Individuals With Magnetic Resonance Imaging–Detected Vascular Brain Injury

Authors: Sonia S. Anand, Matthias G. Friedrich, Dipika Desai, Karleen M. Schulze, Philip Awadalla, David Busseuil, Trevor J.B. Dummer, Sébastien Jacquemont, Alexander Dick, David Kelton, Anish Kirpalani, Scott A. Lear, Jonathan Leipsic, Michael D. Noseworthy, Louise Parker, Grace Parraga, Paul Poirier, Paula Robson, Jean-Claude Tardif, Koon Teo, Jennifer Vena, Salim Yusuf, Alan R. Moody, Sandra E. Black, Eric E. Smith,

This study investigated if scores on a cognitive screen were lower in individuals with higher cardiovascular risk, and those with covert vascular brain injury. Among a middle-aged community-dwelling population, scores on a cognitive screen were lower in individuals with higher cardiovascular risk factors or MRI vascular brain injury. Much of the population attributable risk of low cognitive scores can be attributed to lower educational attainment, higher cardiovascular risk factors, and MRI vascular brain injury.

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2020

Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes

Authors: Aminah Tasnim Ali, Youssef Idaghdour, Alan Hodgkinson

The study identified links between mitochondrial RNA modification levels and genetic variants in the nuclear genome, including a missense mutation in LONP1, and found that genetic variants within MRPP3 and TRMT61B are associated with RNA modification levels across a large number of tissues.

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2020

Is there an agreement between self-reported medical diagnosis in the CARTaGENE cohort and the Québec administrative health databases?

Authors: Yves Payette, Cristiano Soares de Moura, Catherine Boileau, Sasha Bernatsky, Nolwenn Noisel

This study sought to determine if administrative health data and self-report questionnaires would yield the same information as population health studies. Further the research team hoped to identify statisical predictors. It was determined that there was agreement between AHD and self reported questionnaire and that there were variations depending on the disease.

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