RetroFun-RVS: A retrospective family-based framework for rare variant analysis incorporating functional annotations
The researchers explored how rare genetic variations contribute to complex diseases, particularly those located in noncoding regions of the genome, which are difficult to interpret. They used data from the CARTaGENE cohort as controls along with other cohort data to develop and test a new method called RetroFun-RVS. This method helps identify disease-related rare genetic variants by analyzing how they are shared among family members with the same condition.
Association between frailty and bone health in early-stage chronic kidney disease: a study from the population-based CARTaGENE cohort
The researchers explored the associations between renal function, frailty, and bone outcomes using data from the CARTaGENE cohort. They conducted a retrospective study from a population-based cohort representing 1% of individuals aged 40–69 in a Canadian province, excluding those with an estimated glomerular filtration rate (eGFR) <30 mL/min/1.73 m². Frailty was defined using Fried's criteria, and bone density was measured using quantitative ultrasound at the calcaneus, assessing speed of sound (SOS) and broadband ultrasound attenuation (BUA). Having at least one frailty criterion was associated with lower SOS and BUA scores and a higher risk of fractures. The findings indicate that frailty is linked to both lower bone mineral density and an increased fracture risk.
Gender differences in the association between adherence to healthy diet principles and adherence to cardiopreventive medication among adults from Québec (Canada)
The researchers examined gender differences in the relationship between adherence to healthy diet principles and cardiopreventive medication among 268 women and 204 men in the CARTaGENE cohort. Using the Alternate Healthy Eating Index (AHEI) and daily pharmacotherapy possession rate (DPPR) to assess healthy diet and medication adherence, respectively, they found contrasting associations. Among men, higher AHEI scores were inversely associated with DPPR, particularly in non-smokers and those on cholesterol-lowering medication only. In women, this association was positive and stronger among those with obesity or using three or more medications, highlighting gender-specific challenges in optimizing adherence to both behaviors.
Uromodulin and risk of upper urinary tract infections: A Mendelian randomization study
The researchers examined whether uromodulin, a protein produced by the kidneys, helps protect against upper urinary tract infections using data from the CARTaGENE cohort and other large datasets. They used a genetic approach called Mendelian randomization. The study included participants with measured urinary uromodulin levels and individuals with or without upper urinary tract infections. Their analysis showed that higher genetically predicted levels of urinary uromodulin were linked to a lower risk of these infections. These findings suggest that uromodulin may play a protective role in preventing upper urinary tract infections.
Covert vascular brain injury and cognitive dysfunction among Chinese adults living in Canada and China
The researchers examined how country of residence influences covert cerebrovascular disease (VBI) and cognitive dysfunction among Chinese adults living in Canada and China. The study compared Chinese adults in Canada and China. They found that people in Canada had a lower prevalence of covert VBI and cognitive dysfunction than those living in China, even though both groups shared the same ethnicity. Living in China was associated with a much higher risk of covert VBI and lower cognitive function, although the link between cognitive dysfunction and country of residence was explained by education and traditional cerebrovascular risk factors, such as blood pressure and cholesterol.
Relationships between the Planetary Health Diet Index, its food groups, and polygenic risk of obesity in the CARTaGENE cohort
The researchers investigated the relationship between adherence to the Planetary Health Diet Index (PHDI) and genetic susceptibility to obesity in 7,037 CARTaGENE participants. They found that higher PHDI adherence was negatively associated with BMI, waist circumference, and body fat percentage. Genetic susceptibility to obesity was partly mediated by red meat and whole grain intake, with some effects varying by sex and reducing after correction for multiple comparisons.
Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes
The researchers assessed the relationship between copy-number variants (CNVs) and cognitive ability using data from six cohorts, including the CARTaGENE cohort. They performed a genome-wide association study (GWAS) with 258,292 individuals, identifying a duplication at 2q12.3 associated with higher cognitive performance. A functional-burden analysis was developed to examine the association between cognition and CNVs disrupting 6,502 gene sets defined across various biological tissues, cell types, and ontologies. Among these, 864 gene sets were linked to cognition, with the effect sizes of deletions and duplications negatively correlated. Deletions affected subcortical regions and postsynaptic functions, while duplications impacted the cerebral cortex and presynaptic functions.
Lower estimated glomerular filtration rate relates to cognitive impairment and brain alterations
The researchers investigated the association between estimated glomerular filtration rate (eGFR) and cognitive function in 15,897 CARTaGENE participants. They found that lower eGFR was linked to reduced cognitive performance and that brain regions associated with eGFR were enriched in mitochondrial and inflammation-related genes. These associations were independent of age, sex, education, BMI, Framingham risk score, and white matter lesion volume.
Exposure to air pollutants and subclinical carotid atherosclerosis measured by magnetic resonance imaging: A cross-sectional analysis
The researchers examined how long-term exposure to air pollution affects early signs of heart disease. They used data to explore whether low levels of air pollutants are linked to the thickening of artery walls. The study included 6,645 adults from five Canadian provinces and estimated their exposure to nitrogen dioxide (NO₂), ozone (O₃), and fine particulate matter (PM2.5) over several years. Using MRI scans to measure carotid artery wall thickness, the researchers found mixed results. Higher levels of ozone were linked to thicker artery walls, suggesting a potential negative effect, while higher nitrogen dioxide levels were associated with thinner artery walls, a finding that requires further investigation.
Estimating Additive Interaction in Two-Stage Individual Participant Data Meta-Analysis.
The researchers aimed to describe how the Relative Excess Risk due to Interaction (RERI) and other measures of additive interaction or effect modification can be validly estimated within two-stage individual participant data (IPD) meta-analysis. They proposed a three-step procedure to estimate additive interaction, and illustrate this procedure by investigating interaction between depression and smoking and risk of smoking-related cancers incidence during follow-up, and used IPD of six cohorts, including CARTaGENE.