Publications

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

2024

Lower estimated glomerular filtration rate relates to cognitive impairment and brain alterations

Authors: S. Rahayel, R. Goupil, D.S. Genest, F. Lamarche, M. Agharazii, V. Ayral, C. Tremblay, F. Madore

The researchers investigated the association between estimated glomerular filtration rate (eGFR) and cognitive function in 15,897 CARTaGENE participants. They found that lower eGFR was linked to reduced cognitive performance and that brain regions associated with eGFR were enriched in mitochondrial and inflammation-related genes. These associations were independent of age, sex, education, BMI, Framingham risk score, and white matter lesion volume.

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2024

Cohort profile: the CARTaGENE Cohort Nutrition Study (Quebec, Canada)

Authors: V. Ho, I. Csizmadi, B. A. Boucher, M. McInerney, C. Boileau, N. Noisel, Y. Payette, P. Awadalla, A. Koushik

The researchers aimed to address emerging nutritional epidemiological research questions, using data from the CARTaGENE cohort. Dietary information was collected making it a rich resource for the exploration of diet in the etiology of many health outcomes. They found that dietary intake and quality varied among participants but generally met recommended nutrient levels. Along with other findings, the Canadian Healthy Eating Index 2005 (C-HEI) scores were higher among never smokers, those with higher education, and those with more physical activity compared to current smokers, less than high school education, and those with lower physical activity.

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2024

Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome

Authors: Fulya Akçimen, Ruth Chia, Sara Saez-Atienzar, Paola Ruffo, Memoona Rasheed, Jay P. Ross, Calwing Liao, Anindita Ray, Patrick A. Dion, Sonja W. Scholz , Guy A. Rouleau, and Bryan J. Traynor

The researchers studied 9,851 Restless Legs Syndrome (RLS) cases and 38,957 controls of European ancestry from CARTaGENE, Canadian Longitudinal Study on Aging, and All of Us biobanks in Canada and the U.S. They found nine genetic locations linked to RLS, including one new location (LMX1B), and identified two related genes (GLO1 and ELFN1). The study also revealed genetic overlaps between RLS and traits like neuroticism, depression, and intelligence. This research enhances our understanding of RLS’s genetic factors.

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2024

Addressing dispersion in mis-measured multivariate binomial outcomes: A novel statistical approach for detecting differentially methylated regions in bisulfite sequencing data

Authors: K. Zhao, K. Oualkacha, Y. Zeng, C. Shen, K. Klein, et al.

The researchers investigated the association between DNA methylation and levels of anti-citrullinated protein antibodies (ACPA), a preclinical marker for rheumatoid arthritis (RA) risk, using asymptomatic samples from the CARTaGENE cohort. Through targeted custom capture sequencing of whole blood, their analysis identified 23 significant genes potentially contributing to ACPA-related differential methylation. These findings emphasize the roles of cell signaling and collagen metabolism in RA.

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2024

A statistical testing strategy accounting for random and nonrandom (skewed) X-chromosome inactivation identifies lung cancer susceptibility loci among smokers

Authors: Jantzen R, Camilleri-Broët S, Ezer N, Broët P

The research used 9,261 participants from the CARTaGENE cohort to identify susceptibility loci for lung cancer among current and past smokers. X chromosome-wide statistical analysis identified two SNPs in low-linkage disequilibrium located in the IL1RAPL1 (IL-1 R accessory protein-like) gene: rs12558491 and rs12835699. For both SNPs, the minor allele was associated with lower lung cancer risk.

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2024

Ultra-processed foods consumption, depression, and the risk of diabetes complications in the CARTaGENE project: a prospective cohort study in Quebec, Canada

Authors: Akankasha Sen, Anne-Sophie Brazeau, Sonya Deschênes, Hugo Ramiro Melgar-Quiñonez, Norbert Schmitz 

Researchers examined the association between depression, ultra-processed food consumption (UPFs), and the risk of developing diabetes-specific complications in adults with type 2 diabetes. Data from participants enrolled in CARTaGENE were used. Over 7 years, 105 individuals developed diabetes-related complications. Participants with high depressive symptoms and high levels of UPF consumption had a higher risk of diabetes complications compared to those without depressive symptoms and low levels of UPFs in their diet. When high depressive symptoms and antidepressant use were combined with high UPF consumption, the risk of diabetes complications was higher.

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2023

Factors associated with change in moderate or severe symptoms of anxiety and depression in community-living adults and older adults during the COVID-19 pandemic

Authors: Helen-Maria Vasiliadis, Jessica Spagnolo, Mary Bartram, Marie-Josée Fleury, Jean-Philippe Gouin, Sébastien Grenier, Pasquale Roberge, Grace Shen-Tu, Jennifer E Vena, Catherine Lamoureux-Lamarche , JianLi Wang

Researchers explored changes in moderate or severe symptoms of anxiety or depression (MSSANXDEP) from before to during the COVID-19 pandemic in Canada, and examined associated sociodemographic, economic, psychosocial, health behavior and lifestyle, and clinical factors. Data from 59,997 participants from the five established cohorts of the Canadian Partnership for Tomorrow’s Health (CanPath) were used. Analyses indicated that certain sociodemographic, economic, lifestyle, health behavior, psychosocial, and clinical factors were associated with remitted, incident, and persistent MSSANXDEP.

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2023

Plant-based dietary patterns and genetic susceptibility to obesity in the CARTaGENE cohort

Authors: Guiomar Masip, Atheer Attar, Daiva E Nielsen

Researchers explored whether adherence to three plant-based dietary indices (PDIs) mediated or moderated genetic susceptibility to obesity. The study included 7,037 adults from the CARTaGENE cohort. Obesity outcomes were found to be significantly associated with overall- and healthy-PDIs and polygenic risk scores (PRSs). Adherence to PDIs neither mediated nor moderated genetic susceptibility to obesity. Higher levels of meat consumption were positively associated with obesity, while increased levels of whole grain intake were negatively associated with obesity outcomes.

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2023

The role of ultra-processed food consumption and depression on type 2 diabetes incidence: a prospective community study in Quebec, Canada

Authors: Akankasha Sen, Anne-Sophie Brazeau, Sonya Deschênes, Hugo Ramiro Melgar-Quiñonez, Norbert Schmitz

Researchers explored the link between depression and consumption of highly processed foods as potential risk factors for developing type 2 diabetes. Using CARTaGENE data, findings suggest that individuals with high depressive symptoms and high consumption of ultra-processed foods had the highest risk of developing type 2 diabetes.

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2023

Factors associated with mental health service use during the pandemic: Initiation and barriers

Authors: Helen-Maria Vasiliadis, Jessica Spagnolo, Marie-Josée Fleury, Jean-Philippe Gouin, Pasquale Roberge, Mary Bartram, Sébastien Grenier, Grace Shen-Tu, Jennifer E. Vena, JianLi Wang

This study aimed to understand the factors associated with initiating new mental health service use (MHSU) during the COVID-19 pandemic, as well as distinguishing between different reasons for not seeking mental health services. The research found that several factors influenced MHSU, such as age, living situation, income, and health professional status. The study suggests the need for awareness campaigns targeting older adults to explain the importance of seeking treatment and for sensitizing health professionals to facilitate access to mental health care for individuals at risk of social isolation and lower socioeconomic status.

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