Coronary artery disease (CAD) remains the leading cause of mortality and morbidity worldwide. Recent advances in large-scale genome-wide association studies have highlighted the potential of genetic risk, captured as polygenic risk scores (PRS), in clinical prevention. However, the current clinical utility of PRS models is limited to identifying high-risk populations based on the top percentiles of genetic susceptibility. While some studies have attempted integrative prediction using genetic and non-genetic factors, many of these studies have been cross-sectional and focused solely on risk stratification. Our primary objective in this study was to integrate unmodifiable (age / genetics) and modifiable (clinical / biometric) risk factors into a prospective prediction framework which also produces actionable and personalized risk estimates for the purpose of CAD prevention in a heterogenous adult population. Thus, we present an integrative, omnigenic, meta-prediction framework that effectively captures CAD risk subgroups, primarily distinguished by degree and nature of genetic risk, with distinct risk reduction profiles predicted from standard clinical interventions. Initial model development considered ~ 2,000 predictive features, including demographic data, lifestyle factors, physical measurements, laboratory tests, medication usage, diagnoses, and genetics. To power our meta-prediction approach, we stratified the UK Biobank into two primary cohorts: 1) a prevalent CAD cohort used to train baseline and prospective predictive models for contributing risk factors and diagnoses, and 2) an incident CAD cohort used to train the final CAD incident risk prediction model. The resultant 10-year incident CAD risk model is composed of 35 derived meta-features from models trained on the prevalent risk cohort, most of which are predicted baseline diagnoses with multiple embedded PRSs. This model achieved an AUC of 0.81 and macro-averaged F1-score of 0.65, outperforming standard clinical scores and prior integrative models. We further demonstrate that individualized risk reduction profiles can be derived from this model, with genetic risk mediating the degree of risk reduction achieved by standard clinical interventions.
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http://dx.doi.org/10.21203/rs.3.rs-3694374/v1 | DOI Listing |
Clin Cardiol
January 2025
Unidad de Revisiones Sistemáticas y Meta-análisis (URSIGET), Vicerrectorado de Investigación, Universidad San Ignacio de Loyola, Lima, Peru.
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Br J Nutr
January 2025
SAMRC/Wits Developmental Pathways for Health Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Although research on the relationship between lean body mass and blood pressure (BP) has been inconsistent, most studies reported that measures of lean body mass are associated with a higher risk of hypertension. We explored relationships between body composition (fat and skeletal muscle mass) and BP in 1162 young adult African women. DXA-derived measures of whole body, central and arm fat mass were associated with higher systolic and diastolic BP, while leg fat percentage was associated with lower systolic and diastolic BP.
View Article and Find Full Text PDFElife
January 2025
Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.
View Article and Find Full Text PDFJ Vasc Access
January 2025
College of Nursing, Xuzhou Medical University, Xuzhou, Jiangsu, China.
Objective: To develop and validate a nomogram model for predicting central venous catheter-related infections (CRI) in patients with maintenance hemodialysis (MHD).
Methods: MHD patients with central venous catheters (CVCs) visiting the outpatient hemodialysis (HD) center of Xuzhou Medical University Affiliated Hospital from January 2020 to December 2023 were retrospectively selected through a HD monitoring system. Patient data were collected, and the patients were divided into training and validation sets in a 7:3 ratio.
Epilepsia
January 2025
Department of Neurology, The University of Alabama at Birmingham, Birmingham, Alabama, USA.
Objective: Temporal encephaloceles (TEs) are seen in patients with drug-resistant epilepsy (DRE); yet they are also common incidental findings. Variability in institutional pre-surgical epilepsy practices and interpretation of epileptogenic network localization contributes to bias in existing epilepsy cohorts with TE, and therefore the relevance of TE in DRE remains controversial. We sought to estimate effect sizes and sample sizes necessary to demonstrate clinically relevant improvements in seizure outcome with different surgical approaches.
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