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.
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.
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.
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 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.
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.
Evaluation of Adiposity and Cognitive Function in Adults
Researchers sought to undercover the association between adipose tissue (amount and distribution) and cognitive scores. Using data from 9,189 participants, they found that higher visceral adipose tissue and body fat percentage correlated with increased vascular brain injuries and cardiovascular risk factors, as well as lower cognitive scores.
Association of essential tremor with novel risk loci: A genome-wide association study and meta-analysis
This study revealed five genome-wide significant loci associated with essential tremor (ET), one of the most common movement disorders. The researchers’ findings suggest that common genetic variation partly explains ET’s heritability.
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.