A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
Researchers sought to describe how new genes might be associated with ovarian cancer risk amongst 5,249 CARTaGENE participants. They found that a FANCI gene mutation is more common in familial ovarian cancer patients.
Estimated prevalence of Niemann–Pick type C disease in Quebec
Researchers sought to estimate the prevalence of Niemann-Pick type C disease – an autosomal recessive disease that often results in psychiatric problems in adults – in Québec and determine whether it is underdiagnosed in this province. With CARTaGENE RNA-sequencing data from 911 participants and exome sequencing from 198 participants, researchers estimated the prevalence as 0.61 in 100,000 births.
A large Canadian cohort provides insights into the genetic architecture of human hair colour
Researchers performed genome-wide association studies and meta-analyses to garner insight on regulatory mechanisms of hair colour variation and pigmentation biology. 12,996 genotyped CanPath participants were included in this study, along with their self-reported natural hair colour. The researchers fine-mapped significant loci throughout the genome, identifying multiple novel causal variants for hair colour.
Effect of Cognitive Reserve on the Association of Vascular Brain Injury with Cognition: Analysis of the PURE and CAHHM Studies
This study sought to determine whether cognitive reserve lessens the correlation between brain injury and cognition. The researchers analyzed data from two population-based studies, including the Canadian Alliance for Healthy Hearts and Healthy Minds (CAHHM), comprising CanPath national and regional data. They found that brain injury and cognitive reserve are related to cognition, but higher cognitive reserve does not mitigate the harmful effects of brain injury.
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
To investigate the genetics of gene expression, the team performed cis- and trans-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals through the eQTLGen Consortium.
Psychosocial factors and cancer incidence (PSY-CA): Protocol for individual participant data meta-analyses
This study aims (1) to test whether psychosocial factors are associated with the incidence of any cancer; (2) to test the interaction between psychosocial factors and factors related to cancer risk with regard to the incidence of cancer; and (3) to test the mediating role of health behaviors in the relationship between psychosocial factors and the incidence of cancer.
Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control
This study assessed whether cardiovascular and renal risk factors combined with the age of onset and duration of diabetes are sufficient predictors of type 2 diabetes. Of the 21,702 participants, 488 participants with type 2 diabetes originated from CanPath. The researchers developed a prediction model to help identify high-risk individuals who could benefit from therapies and treatments.
Epidemiological characteristics of the COVID-19 spring outbreak in Quebec, Canada: a population-based study
This study examined the epidemiological and socio-economic impact of the spring 2020 outbreak of COVID-19 on the Quebec population. An online survey of the participants of CARTaGENE was conducted, with 8,129 respondents. The study found some discrepancies between the symptoms associated with being tested and being positive. The results also emphasize the need for increasing the accessibility of testing for the general population.
Validation of breast cancer risk assessment tools on a French-Canadian population-based cohort
This study evaluated the use of the Breast Cancer Risk Assessment Tool (BCRAT), International Breast Cancer Intervention Study risk evaluation tool (IBIS), Polygenic Risk Scores (PRS) and combined scores to predict the occurrence of invasive breast cancers at 5 years in a French-Canadian population.
Common variants in the CD36 gene are associated with dietary fat intake, high-fat food consumption and serum triglycerides in a cohort of Quebec adults
This study found that CD36 variants are associated with habitual fat consumption, which may play a role in subsequent associations with chronic-disease biomarkers. Associations differ by BMI status and dietary fat type.