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.
A test to comprehensively capture the known genetic component of familial pulmonary fibrosis
The study aimed to develop a laboratory-developed test (LDT) based on standard Sanger sequencing to capture all known familial pulmonary fibrosis-associated variants. The new genetic test was evaluated in 62 sporadic cases of idiopathic pulmonary fibrosis. It was found that the MUC5B promoter variant rs35705950 was strongly enriched in these patients, with a minor allele frequency of 41.1%, compared with 10.6% in a matched population-based cohort from CARTaGENE.
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.
Relationship between lifestyle habits and cardiovascular risk factors in familial hypercholesterolemia
This study’s objective was to assess the relationship between lifestyle and cardiovascular risk factors in adults with familial hypercholesterolemia (FH), the most prevalent genetic disorder causing premature cardiovascular diseases (CVD) and deaths. Using data from 122 CARTaGENE participants, researchers suggest that a healthy lifestyle (e.g., not smoking, being physically active, eating a healthy diet, having a light to moderate alcohol consumption, sleeping 7-8 hours per day) is favorably associated with CVD risk factors in adults with FH.
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.