Publications

Les publications qui suivent sont des exemples de recherches rendues possibles grâce aux données de CanPath et de ses cohortes régionales.

2023

Provincial variation in colorectal cancer screening adherence in Canada; evidence from the Canadian Partnership for Tomorrow’s Health

Auteurs : Maryam Darvishian, Amina Moustaqim-Barrette, Philip Awadalla, Parveen Bhatti, Philippe Broet, Kelly McDonald, Rachel A. Murphy, Kimberly Skead, Robin Urquhart, Jennifer Vena, Trevor J. B. Dummer

The researchers sought to assess regional variation in screening uptake, identify factors to non-adherence to screening, and estimate adherence to screening in those with differing risk profiles. Using national CanPath data, they found adherence suboptimal amongst Canadians and noticed variation by region.

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2023

From genetic association to forensic prediction: Computational methods and tools for identifying phenotypically informative single nucleotide polymorphisms

Auteurs : Cristina L. Abbatangelo, Frida Lona Durazo, Frank R. Wendt, Esteban J. Parra, Nicole M.M. Novroski

The researchers assessed how pigmentation genetics can enhance forensic DNA phenotyping (FDP) for predicting externally visible characteristics (EVCs) such as hair, eye, and skin color. Using a genome-wide association study (GWAS) approach, they analyzed single nucleotide polymorphisms (SNPs) associated with pigmentation traits in data from CARTaGENE, Alberta’s Tomorrow Project, Ontario Health Study, BC Generations Project, and Atlantic PATH. Specifically, they examined genetic variants related to eye color in individuals with a blue eye color background (rs12913832:GG genotype). The study demonstrated how GWAS data, combined with post-genotyping analyses and functional annotation, can provide insights into pigmentation-associated loci. The findings contribute to refining FDP accuracy and may serve as a reference for future genomic investigations of EVCs in forensic settings.

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2023

150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility

Auteurs : Yeda Wu, Slavina B. Goleva, Lindsay B. Breidenbach, Minsoo Kim, Stuart MacGregor, Michael J. Gandal, Lea K. Davis, Naomi R. Wray

This study includes data from over 724,000 individuals, including data from 7,696 CARTaGENE participants. Researchers identified 150 genetic variants associated with diverticular disease (DivD) of the intestine. Their findings suggest that DivD may be linked to factors related to colon structure, gut motility, gastrointestinal mucus, and ionic balance. Notably, one of the identified genes is a target for a drug used to treat irritable bowel syndrome (IBS), highlighting a potential connection between these two gastrointestinal conditions.

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2023

Time spent in the sun and the risk of developing non-Hodgkin lymphoma: a Canadian cohort study

Auteurs : Dylan E. O'Sullivan, Troy W. R. Hillier, Darren R. Brenner, Cheryl E. Peters, Will D. King

This study’s objective was to explore the relationship of sun behaviour patterns with non-Hodgkin lymphoma (NHL) risk. Using data from 79,803 Alberta’s Tomorrow Project, CARTaGENE, and Ontario Health Study participants, the researchers found a protective effect of moderate time spent in the sun on NHL risk

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2023

On the genes, genealogies, and geographies of Quebec

Auteurs : Luke Anderson-Trocmé, Dominic Nelson, Shadi Zabad, Alex Diaz-Papkovich, Ivan Kryukov, Nikolas Baya, Mathilde Touvier, Ben Jeffery, Christian Dina, Hélène Vézina, Jerome Kelleher, Simon Gravel

Researchers used historical records and genetic data from 20,451 CARTaGENE participants to create a detailed model of French Canadian ancestry. They found that the population’s structure has changed, particularly influenced by geographic factors and river networks. Their simulated genetic dataset is available for further research.

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2023

Prevalence of weak D phenotypes in the general population of Québec, Canada: A focus on weak D type 42

Auteurs : Mathieu Drouin, Samuel Rochette, Maryse St-Louis, Antoine Lewin, Josée Laganière

L’objectif de cette étude était d’évaluer la relation entre le cholestérol résiduel non à jeun (RC) et les maladies cardiovasculaires (MCV) chez les diabétiques et les non-diabétiques à l’aide des données de 13 631 participants à l’Alberta’s Tomorrow Project. Les chercheurs ont constaté qu’un taux élevé de cholestérol résiduel non à jeun était associé à un risque accru de MCV chez les adultes d’âge moyen et plus âgés non diabétiques.

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2023

Mental health service use and associated predisposing, enabling and need factors in community living adults and older adults across Canada

Auteurs : 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

The authors utilized data from the CanPath COVID-19 health survey (May to December 2020) to conduct multivariate logistic regression analysis to determine the association between mental health service use (MHSU) and predisposing, enabling, and need factors — derived from Andersen’s model of healthcare-seeking behaviour — among five regional cohorts. Among the 45,542 adults in the study population, 6.3% of respondents reported MHSU and need factors were consistently associated with MHSU.

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2023

Evaluation of the accuracy of the PLCOm2012 6-year lung cancer risk prediction model among smokers in the CARTaGENE population-based cohort

Auteurs : Rodolphe Jantzen, Nicole Ezer, Sophie Camilleri-Broët, Martin C. Tammemägi, Philippe Broët

Cette étude visait à valider un outil de prédiction du risque de cancer du poumon en utilisant les données des participants à CARTaGENE. L’outil a démontré une bonne précision dans l’identification du risque de cancer du poumon, mais a sous-estimé le nombre de cas. Cet outil pourrait nécessiter des ajustements de calibration pour la population québécoise.

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2023

Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases

Auteurs : Wejdan M Alenezi, Caitlin T Fierheller, Corinne Serruya, Timothée Revil, Kathleen K Oros, Deepak N Subramanian, Jeffrey Bruce, Dan Spiegelman, Trevor Pugh, Ian G Campbell, Anne-Marie Mes-Masson, Diane Provencher, William D Foulkes, Zaki El Haffaf, Guy Rouleau, Luigi Bouchard, Celia M T Greenwood, Jiannis Ragoussis, Patricia N Tonin

Les chercheurs ont étudié des familles présentant des antécédents de cancer de l’ovaire qui ne pouvaient être expliqués par des facteurs de risque génétiques connus. En utilisant des témoins sains de CARTaGENE, ils ont appliqué une approche ciblée sur les gènes et ont trouvé des variantes génétiques rares dans les gènes de la voie de réparation de l’ADN, en particulier dans ERCC5, EXO1, FANCC, NEIL1 et NTHL1, dans une partie importante de ces familles.

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2023

Relationships between Obesity and Incidence of Fractures in a Middle-Aged Population: A Study from the CARTaGENE Cohort

Auteurs : Anne-Frédérique Turcotte, Sonia Jean, Suzanne N Morin, Fabrice Mac-Way, Claudia Gagnon

L’étude a examiné la cohorte CARTaGENE pour évaluer l’association entre l’obésité et l’incidence des fractures chez les personnes d’âge moyen, entre 40 et 70 ans, et a ensuite stratifié les données en fonction du sexe. Les auteurs ont déterminé que, chez les personnes d’âge moyen, l’obésité était associée au risque de fracture distale des membres inférieurs, tant chez les hommes que chez les femmes.

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