Prediction of Cardiovascular Events by Pulse Waveform Parameters: Analysis of CARTaGENE
Researchers conducted the largest study to date evaluating non-invasive pulse waveform parameters’ association with cardiovascular events. By adding two waveform parameters to the existing atherosclerotic cardiovascular disease score, they improved cardiovascular prediction and reclassified up to 5.7% of patients in another risk category.
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. Using data from 920 CARTaGENE participants and four other sources, the researchers identified 20 novel genes with modest association evidence for overall and subtype-specific breast cancers.
Recombination affects allele-specific expression of deleterious variants in human populations
This study investigates how changes in the genetic makeup of a population, influenced by random genetic drift and selective forces, impact the variation in observable traits over time. The researchers found that specific factors like recombination rates and population size affect patterns of allele-specific gene expression, with regions of high recombination showing a higher efficiency in using this mechanism to suppress harmful genetic variations.
FGF23-Klotho axis and fractures in patients without and with early CKD: A case-cohort analysis of CARTaGENE
Researchers sought to assess the relationship between fibroblast growth factor-23 (FGF-23) and fractures, especially in chronic kidney disease (CKD). With data and biological samples from 312 CARTaGENE participants (153 with CKD), they found that c-terminal FGF-23 (cFGF-23) greatly reduced the relationship between CKD status and fractures.
Evaluation of Adiposity and Cognitive Function in Adults
Researchers sought to undercover the association between adipose tissue (amount and distribution) and cognitive scores. Using data from 9,189 participants, they found that higher visceral adipose tissue and body fat percentage correlated with increased vascular brain injuries and cardiovascular risk factors, as well as lower cognitive scores.