Agreement in the CARTaGENE cohort between self-reported medication use and claim data
The research team investigated the agreement of self-reported medication use in CARTaGENE baseline data with provincial health insurance records. Overall, there was a reasonable agreement between the two data sources, but important variations were found for the different drug classes.
Diabetes, Brain Infarcts, Cognition and Small Vessels in the Canadian Alliance for Healthy Hearts and Minds Study
The CAHHM study collected brain and carotid magnetic resonance imaging (MRI) and two cognitive tests (DSST and MoCA) in a cross-sectional sample of 7,733 men and women. It was concluded that small vessel disease characterizes much of the relationship between diabetes and vascular brain injury. However, additional factors are required to disentangle the relationship between diabetes and cognitive impairment.
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.
Allele-specific expression reveals interactions between genetic variation and environment
Combining whole-blood RNA-seq with extensive environmental annotations collected from 922 human individuals, we identified 35 GxE interactions, compared with only four using standard GxE interaction testing. EAGLE provides new opportunities for researchers to identify GxE interactions using functional genomic data.