Quantifying the Predictive Accuracy of a Polygenic Risk Score for Predicting Incident Cancer Cases: Application to the CARTaGENE Cohort
This study evaluated the 5-year predictivity of an 18-single nucleotide polymorphism PRS for incident breast cancer cases in the CARTaGENE cohort using pseudo R^2 indices. It concluded that the proposed pseudo-R^2 is easy to implement and well suited to evaluate PRS for predicting incident events in cohort studies.
Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls
The purpose of this study was to evaluate the efficacy of genetic testing for these variants of the BRCA gene in Montreal French Canadians. A total of 555 breast cancer cases unselected for family history or age of diagnosis were genotyped, along with 1940 controls without a personal or family history of cancer. Almost 10% of the early onset cases of BC were heterozygous for founder BRCA1 or BRCA2. 7 of the 20 variants of the breast cancer gene tested for were found in this study.
Association of Glomerular Hyperfiltration and Cardiovascular Risk in Middle-Aged Healthy Individuals
In this cohort study of 9,515 patients with health information accessed through the CARTaGENE cohort, glomerular hyperfiltration was shown to be associated with increased risk of cardiovascular events in middle-aged healthy individuals. This suggests that glomerular hyperfiltration could be a useful cardiovascular biomarker in this population.
Reduced Cognitive Assessment Scores Among Individuals With Magnetic Resonance Imaging–Detected Vascular Brain Injury
This study investigated if scores on a cognitive screen were lower in individuals with higher cardiovascular risk, and those with covert vascular brain injury. Among a middle-aged community-dwelling population, scores on a cognitive screen were lower in individuals with higher cardiovascular risk factors or MRI vascular brain injury. Much of the population attributable risk of low cognitive scores can be attributed to lower educational attainment, higher cardiovascular risk factors, and MRI vascular brain injury.
Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes
The study identified links between mitochondrial RNA modification levels and genetic variants in the nuclear genome, including a missense mutation in LONP1, and found that genetic variants within MRPP3 and TRMT61B are associated with RNA modification levels across a large number of tissues.
Is there an agreement between self-reported medical diagnosis in the CARTaGENE cohort and the Québec administrative health databases?
This study sought to determine if administrative health data and self-report questionnaires would yield the same information as population health studies. Further the research team hoped to identify statisical predictors. It was determined that there was agreement between AHD and self reported questionnaire and that there were variations depending on the disease.
Impact of updated recommendations on acetylsalicylic acid use for primary prevention of cardiovascular disease in Canada: a population-based survey
This study aimed to evaluate the prevalence and factors associated with ASA use, and the potential impact of implementing the most recent (2016) US Preventive Services Task Force recommendations for primary CVD prevention in a Canadian setting.
Investigating associations between anti-nuclear antibody positivity and combined long-term exposures to NO2, O3, and PM2.5 using a Bayesian kernel machine regression approach.
This group determined ANA using biobanked sera, they asssesed the effects of exposures to NO2 and O3 and PM2.5, they compared the results obtained by the BKMR to standard logistic regression models
Incidence of fractures in middle-aged individuals with early chronic kidney disease: a population-based analysis of CARTaGENE
This article looked at the the number of new fractures with people in the CARTaGENE cohort that were affected with CKD
Anxiety and Depression Symptom Comorbidity and the Risk of Heart Disease: A Prospective Community-Based Cohort Study
This article was looking at the association between anxiety/depression and heart disease. They found depression without anxiety had a higher risk of heart disease. There was no significant risk of heart disease when there was anxiety, but not depression.