Publications

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

2023

Added value of waist circumference to body mass index for predicting fracture risk in obesity: a prospective study from the CARTaGENE cohort

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

The researchers aimed to assess associations between waist circumference (WC) and fracture incidence within BMI categories to examine whether BMI modifies the relationships. Using data from 18,236 CARTaGENE participants, they found that larger WC was associated with a greater risk for fractures among those in the normal-to-overweight category.

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2023

Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits

Authors: Meriem Bahda, Jasmin Ricard, Simon L. Girard, Michel Maziade, Maripier Isabelle, Alexandre Bureau

The authors developed a summary-statistics-based multivariate penalized regression approach to improve the prediction of complex human traits and disorders, such as schizophrenia and bipolar disorder, by considering genetic correlations between these conditions. The study utilized genotypes from 29,330 subjects from the CARTaGENE cohort to determine the predictive performance of polygenic risk scores (PRS) for genetically correlated traits in simulation for several PRS construction methods.

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2023

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

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

This study aimed to estimate the prevalence of weak D type 42, a particular blood group variant, and other common weak D phenotypes among 1000 CARTaGENE participants. Researchers estimated that about 0.08% of the Quebec population has this variant.

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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

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

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

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

This study aimed to validate a tool to predict lung cancer risk using data from CARTaGENE participants. It showed good accuracy in identifying lung cancer risk but underestimated the number of cases. This tool may require calibration adjustments for the Quebec population.

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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

Authors: 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

Researchers investigated families with a history of ovarian cancer that couldn’t be explained by known genetic risk factors. Using healthy controls from CARTaGENE, they applied a targeted gene approach and found rare genetic variants in DNA repair pathway genes, particularly in ERCC5, EXO1, FANCC, NEIL1, and NTHL1, in a significant portion of these families.

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2023

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

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

The study examined the CARTaGENE cohort to evaluate the association between obesity and fracture incidence among middle-aged individuals, 40 to 70 years, and further stratified the data by sex. The authors determined that, in middle-aged individuals, obesity was associated with distal lower limb fracture risk among both men and women.

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2023

Mental health, cancer risk, and the mediating role of lifestyle factors in the CARTaGENE cohort study

Authors: Kaitlyn Gilham, Anne Gadermann, Trevor Dummer, Rachel A Murphy

This study investigates the associations between depression, anxiety, and cancer risk and the mediating effects of lifestyle. Using data from 34,571 CARTaGENE participants, researchers found positive links between mental health disorders, all cancers, and lung cancer risk, except for anxiety and lung cancer in women, where associations were lower when adjusting for sociodemographics, health and lifestyle. The study also found that smoking affected the relationship between mental health disorders and cancer risk. Overall, the study suggests that lifestyle factors, like smoking, may be important in understanding the relationship between mental health and cancer risk.

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2023

Circulating microRNA expression signatures accurately discriminate myalgic encephalomyelitis from fibromyalgia and comorbid conditions

Authors: Evguenia Nepotchatykh, Iurie Caraus, Wesam Elremaly, Corinne Leveau, Mohamed Elbakry, Christian Godbout, Bita Rostami-Afshari, Diana Petre, Nasrin Khatami, Anita Franco, Alain Moreau

Researchers examined the levels of 11 specific molecules called miRNAs in individuals with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), fibromyalgia (FM), and those with both conditions (ME/CFS + FM), as well as in healthy controls. Using samples from 38 CARTaGENE participants and other sources, they found distinct patterns of these miRNAs that can help differentiate between ME/CFS, FM, and ME/CFS + FM, indicating that these miRNAs could serve as potential biomarkers to aid in the accurate diagnosis of these complex illnesses.

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2023

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene

Authors: Caitlin T Fierheller, Wejdan M Alenezi, Corinne Serruya, Timothée Revil, Setor Amuzu, Karine Bedard, Deepak N Subramanian, Eleanor Fewings, Jeffrey P Bruce, Stephenie Prokopec, Luigi Bouchard, Diane Provencher, William D Foulkes, Zaki El Haffaf, Anne-Marie Mes-Masson, Marc Tischkowitz, Ian G Campbell, Trevor J Pugh, Celia M T Greenwood, Jiannis Ragoussis, Patricia N Tonin

Researchers investigated the genetic characteristics of the FANCI gene, which has been linked to an increased risk of ovarian cancer. Using data from 171 CARTaGENE participants and other sources, they confirmed that a specific FANCI variant is associated with ovarian cancer and discovered potential genetic links to other cancer types.

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