Added value of waist circumference to body mass index for predicting fracture risk in obesity: a prospective study from the CARTaGENE cohort
The researchers aimed to assess associations between waist circumference (WC) and fracture incidence within BMI categories to examine whether BMI modifies the relationships. Using data from 18,236 CARTaGENE participants, they found that larger WC was associated with a greater risk for fractures among those in the normal-to-overweight category.
Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits
The authors developed a summary-statistics-based multivariate penalized regression approach to improve the prediction of complex human traits and disorders, such as schizophrenia and bipolar disorder, by considering genetic correlations between these conditions. The study utilized genotypes from 29,330 subjects from the CARTaGENE cohort to determine the predictive performance of polygenic risk scores (PRS) for genetically correlated traits in simulation for several PRS construction methods.
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.
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.
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin
This study is a meta-analysis of genome-wide association studies to understand the mechanisms that regulate urinary excretion of uromodulin. Researchers identified two novel significant loci, providing insight into uromodulin’s biology, keratins’ role in the kidney, and the UMOD-PDILT locus’s influence on kidney function.
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.
Prediction of Cardiovascular Events by Type I Central Systolic Blood Pressure
This study assessed which of central or brachial blood pressure best predicts cardiovascular risk and identified the central SBP threshold associated with increased risk of future cardiovascular events. It was concluded that central BP measured with a type I device is statistically but likely not clinically superior to brachial BP in a general population without prior cardiovascular disease.
Diet Quality and Food Prices Modify Associations between Genetic Susceptibility to Obesity and Adiposity Outcomes
This cross-sectional investigation geo-temporally linked CARTaGENE data with in-store retail food environment data to examine interactions between a polygenic risk score (PRS) for obesity and (1) diet quality (n = 6807) and (2) in-store retail food measures (n = 3718). The outcomes included adiposity-related measures and diet quality assessed using the 2010 Canadian-adapted Healthy Eating Index.
Fracture status in middle-aged individuals with early CKD: cross-sectional analysis of the CARTaGENE survey
In this cross-sectional analysis, the study team determined that CKD was not correlated with increase fractures, was not a modification factor between calcaneal QUS and fracture, but modified the association between clinical, pharmacological parameters and fracture.
Community Engagement in Genetic Research: Results of the First Public Consultation for the Quebec CARTaGENE Project
This article showed how beneficial CARTaGENE’s data would be, but with the caveat that the confidentiality of the participants must be acknowledged and taken into account.