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

Estimating Additive Interaction in Two-Stage Individual Participant Data Meta-Analysis.

Authors: M. Basten, L. A. van Tuijl, K. Y. Pan, A. W. Hoogendoorn, F. Lamers, A. V. Ranchor, J. Dekker, P. Frank, H. Galenkamp, M. J. Knol, N. Noisel, Y. Payette, E. R. Sund, A. H. Zwinderman, L. Portengen, M. I. Geerlings

The researchers aimed to describe how the Relative Excess Risk due to Interaction (RERI) and other measures of additive interaction or effect modification can be validly estimated within two-stage individual participant data (IPD) meta-analysis. They proposed a three-step procedure to estimate additive interaction, and illustrate this procedure by investigating interaction between depression and smoking and risk of smoking-related cancers incidence during follow-up, and used IPD of six cohorts, including CARTaGENE.

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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

Sex-Specific Associations of Aldosterone and Renin with Body Composition: A Population-Based Cohort Study

Authors: G. L. Hundemer, M. Agharazii, F. Madore, M.-E. Piché, C. Gagnon, A. Bussières, M. St-Jean, A. A. Leung, G. A. Kline, M. M. Sood, D. Burger, T. Ramsay, R. Goupil

The researchers investigated the associations of aldosterone and renin with body composition according to sex in a population-based cohort. Using data from 3,687 adults aged 40-69 years enrolled in the CARTaGENE study, they found that among males, higher aldosterone and renin levels were linked to increased waist to hip ratio, increased fat mass, and decreased lean and muscle mass, while aldosterone specifically was also associated with increased ectopic cardiac adiposity. In contrast, among females higher renin, but not aldosterone, was associated with increased waist circumference, increased waist-to-hip ratio, and increased cardiac adiposity. Higher renin and aldosterone were associated with increased fat mass but were not associated with lean body mass or muscle mass.

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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

Polygenic inheritance and its interplay with smoking history in predicting lung cancer diagnosis: a French-Canadian casecontrol cohort

Authors: Véronique Boumtje, Hasanga D. Manikpurage, Zhonglin Li, Nathalie Gaudreault, Victoria Saavedra Armero, Dominique K. Boudreau, Sébastien Renaut, Cyndi Henry, Christine Racine, Aida Eslami, Stéphanie Bougeard, Evelyne Vigneau, Mathieu Morissette, Benoit J. Arsenault, Catherine Labbé, Anne-Sophie Laliberté, Simon Martel, François Maltais, Christian Couture, Patrice Desmeules, Patrick Mathieu, Sébastien Thériault, Philippe Joubert, Yohan Bossé

The researchers equipped a case-control dataset, consisting of 4002 lung cancer cases from the LORD project and 20,010 ethnically matched controls from the CARTaGENE cohort. The researchers aimed to generate a genome-wide polygenic risk score for lung cancer to improve risk prediction and delineate individuals at high genetic risk of lung cancer for earlier detection and prevention.

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2024

The mediating role of health behaviors in the association between depression, anxiety and cancer incidence: An individual participant data meta-analysis

Authors: Kuan-Yu Pan, Lonneke van Tuijl , Maartje Basten, Judith J M Rijnhart, Alexander de Graeff, Joost Dekker , Mirjam I Geerlings, Adriaan Hoogendoorn, Adelita V Ranchor, Roel Vermeulen, Lützen Portengen, Adri C Voogd, Jessica Abell, Philip Awadalla, Aartjan T F Beekman, Ottar Bjerkeset, Andy Boyd, Yunsong Cui, Philipp Frank, Henrike Galenkamp, Bert Garssen, Sean Hellingman, Monika Hollander, Martijn Huisman, Anke Huss, Melanie R Keats, Almar A L Kok, Steinar Krokstad, Flora E van Leeuwen, Annemarie I Luik, Nolwenn Noisel, Yves Payette, Brenda W J H Penninx , Susan Picavet, Ina Rissanen, Annelieke M Roest, Judith G M Rosmalen, Rikje Ruiter, Robert A Schoevers, David Soave, Mandy Spaan, Andrew Steptoe, Karien Stronks, Erik R Sund, Ellen Sweeney, Alison Teyhan, Emma L Twait, Kimberly D van der Willik, Femke Lamers

Researchers investigated how various health behaviors might mediate the relationships between depression, anxiety, and the onset of different types of cancer. They conducted individual participant data meta-analyses using participants from 18 cohorts from the Psychosocial Factors and Cancer Incidence consortium.The cohorts analyzed included the Atlantic Partnership for Tomorrow’s Health, Ontario Health Study, and CARTaGENE. The findings suggested that smoking serves as a mediating factor that connects depression and anxiety with lung cancer and other cancers related to smoking.

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2024

Differences in antihypertensive medication prescription profiles between 2009 and 2021: a retrospective cohort study of CARTaGENE

Authors: Victoria Ivensky, Pitchou Zonga, Gabriel Dallaire, Louis-Charles Desbiens, Annie-Claire Nadeau-Fredette, Guy Rousseau, Rémi Goupil

Researchers examined the differences in antihypertensive medication prescription profiles in the province of Quebec between 2009 and 2021. Data from the CARTaGENE population–based cohort was used. The study found that application of hypertension guidelines for the choice of antihypertensive drugs remains suboptimal, underscoring the importance of educational initiatives.

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