On the genes, genealogies, and geographies of Quebec
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.
Prevalence of weak D phenotypes in the general population of Québec, Canada: A focus on weak D type 42
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.
Mental health service use and associated predisposing, enabling and need factors in community living adults and older adults across Canada
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.
Evaluation of the accuracy of the PLCOm2012 6-year lung cancer risk prediction model among smokers in the CARTaGENE population-based cohort
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.
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases
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.
Relationships between Obesity and Incidence of Fractures in a Middle-Aged Population: A Study from the CARTaGENE Cohort
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.
Mental health, cancer risk, and the mediating role of lifestyle factors in the CARTaGENE cohort study
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.
Circulating microRNA expression signatures accurately discriminate myalgic encephalomyelitis from fibromyalgia and comorbid conditions
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.
Food environment trajectories: a sequence analysis from the CARTaGENE cohort
Researchers sought to categorize how people’s access to food changes over time based on their socioeconomic situations. Using data from 38,627 CARTaGENE participants from urban areas in Quebec, the findings revealed five patterns of food access, with those unable to work, living in larger households, and in low-income households having higher odds of experiencing limited access to food stores over time.
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene
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.