The role of ultra-processed food consumption and depression on type 2 diabetes incidence: a prospective community study in Quebec, Canada
Researchers analyzed the association between depression and ultra-processed food (UPF) consumption as risk factors for developing type 2 diabetes (T2D) using baseline data (2009-2010) from 3,880 CARTaGENE participants. Participants with high depressive symptoms and high UPF consumption were at the highest risk for T2D. The study suggests that early management and monitoring of both risk factors could be essential for diabetes prevention.
Prediction of Cardiovascular Events by Pulse Waveform Parameters: Analysis of CARTaGENE
Researchers conducted the largest study to date evaluating non-invasive pulse waveform parameters’ association with cardiovascular events. By adding two waveform parameters to the existing atherosclerotic cardiovascular disease score, they improved cardiovascular prediction and reclassified up to 5.7% of patients in another risk category.
Harnessing the power of data linkage to enrich the cancer research ecosystem in Canada
This abstract discusses a project aimed at linking cancer registry and administrative health data to Canada’s largest population health study, the Canadian Partnership for Tomorrow’s Health (CanPath). The project seeks to enrich the cancer research ecosystem in Canada by providing researchers with a comprehensive dataset that includes genetics, environment, lifestyle, and behaviour data. The linked data will be made available through a cloud-based solution called the CanPath Data Safe Haven, which is accessible to researchers through secure access. The project will address concerns related to the accessibility of cancer data in Canada, bring more value to existing data, and support an enhanced understanding of the impacts of cancer on marginalized populations.
Identification of human mitochondrial RNA cleavage sites and candidate RNA processing factors
Researchers created a technique to find and measure specific RNA cutting events among 799 CARTaGENE participants and samples from the GTEx project. They uncovered new sites where RNA is cut during mitochondrial processing and discovered genes linked to these processes, shedding light on how genetic variations might affect mitochondrial functions and health conditions.
Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis
Researchers aimed to identify rare genetic variations associated with adolescent idiopathic scoliosis (AIS) by examining the DNA of 60 CARTaGENE participants (healthy controls) and individuals from other sources. They found that the FAT3 gene, while not statistically significant on its own, showed an excess of rare genetic changes in AIS patients, and further investigations revealed specific variants within FAT3 that were more common in severe AIS cases compared to milder cases and healthy individuals, suggesting that FAT3 may play a role in the development of AIS.
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. Using data from 920 CARTaGENE participants and four other sources, the researchers identified 20 novel genes with modest association evidence for overall and subtype-specific breast cancers.
Recombination affects allele-specific expression of deleterious variants in human populations
This study investigates how changes in the genetic makeup of a population, influenced by random genetic drift and selective forces, impact the variation in observable traits over time. The researchers found that specific factors like recombination rates and population size affect patterns of allele-specific gene expression, with regions of high recombination showing a higher efficiency in using this mechanism to suppress harmful genetic variations.
Analyzing cohort studies with interval-censored data: A new model-based linear rank-type test
When analyzing cohort studies with interval-censored data, the researchers suggest that statisticians employ their proposed test to test survival distributions’ quality between two or more groups.
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population
This study aimed to identify specific genetic mutations associated with increased risk of ovarian cancer. The mutations they discovered were found in many early-onset cases, particularly RAD51D, suggesting their role in hereditary ovarian cancer and the importance of the genes in the development of this disease.
Socio-Demographic Factors Associated With COVID-19 Vaccine Hesitancy Among Middle-Aged Adults During the Quebec’s Vaccination Campaign
This study aimed to describe how socioeconomic and demographic characteristics affect vaccine hesitancy. Using data from 6,105 CARTaGENE participants, researchers found that those born outside of Canada and those with a household income under $100,000 had the greatest hesitancy.