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
L’étude a examiné la cohorte CARTaGENE pour évaluer l’association entre l’obésité et l’incidence des fractures chez les personnes d’âge moyen, entre 40 et 70 ans, et a ensuite stratifié les données en fonction du sexe. Les auteurs ont déterminé que, chez les personnes d’âge moyen, l’obésité était associée au risque de fracture distale des membres inférieurs, tant chez les hommes que chez les femmes.
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population
Cette étude visait à identifier des mutations génétiques spécifiques associées à un risque accru de cancer de l’ovaire. Les mutations découvertes ont été retrouvées dans de nombreux cas d’apparition précoce, en particulier le RAD51D, ce qui suggère leur rôle dans le cancer de l’ovaire héréditaire et l’importance des gènes dans le développement de cette maladie.
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin
Ce projet consistait en une méta-analyse des études d’association pangénomique visant à comprendre les mécanismes régulant l’excrétion de l’uromoduline dans l’urine. Les chercheurs ont identifié deux nouveaux loci significatifs qui permettent de mieux comprendre la biologie de l’uromoduline, le rôle des kératines dans le rein et l’influence du locus UMOD-PDILT sur la fonction rénale.
Association of essential tremor with novel risk loci: A genome-wide association study and meta-analysis
Cette étude a révélé cinq loci significatifs à l’échelle du génome associés au tremblement essentiel (TE), l’un des troubles du mouvement les plus courants. Les résultats des chercheurs indiquent que la variation génétique commune explique en partie l’héritabilité du TE.
Prediction of Cardiovascular Events by Type I Central Systolic Blood Pressure
Cette étude a évalué laquelle de la pression artérielle centrale ou brachiale prédit le mieux le risque cardiovasculaire, et a identifié le seuil central de PAS associé à un risque accru d’événements cardiovasculaires futurs. On a conclu que la PA centrale mesurée avec un dispositif de type I est statistiquement, mais probablement non cliniquement, supérieure à la PA brachiale dans une population générale sans maladie cardiovasculaire préalable.