Osteoporosis (OP) is a multifactorial bone disease belonging to the metabolic osteopathies group. Using the polygenic score (PGS) approach, we combined the effects of bone mineral density (BMD) DNA loci, affecting osteoporosis pathogenesis, based on GEFOS/GENOMOS consortium GWAS meta-analysis. We developed models to predict the risk of low fractures in women from the Volga-Ural region of Russia with efficacy of 74% (AUC = 0.740; OR (95% CI) = 2.9 (2.353-3.536)), as well as the formation of low BMD with efficacy of 79% (AUC = 0.790; OR (95% CI) = 3.94 (2.993-5.337)). In addition, we propose a model that predicts fracture risk and low BMD in a comorbid condition with 85% accuracy (AUC = 0.850; OR (95% CI) = 6.6 (4.411-10.608)) in postmenopausal women.
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http://dx.doi.org/10.3390/ijms231710021 | DOI Listing |
Brain Commun
January 2025
Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, Centre for Ageing and Health (AgeCap) at the University of Gothenburg, Mölndal 43139, Sweden.
Atrial fibrillation and heart failure have both been suggested to increase stroke and dementia risk. However, in observational studies, reversed causation and unmeasured confounding may occur. To mitigate these issues, this study aims to investigate if higher genetic risk for atrial fibrillation and heart failure increases dementia and stroke risk.
View Article and Find Full Text PDFFront Med (Lausanne)
January 2025
International Laboratory of Bioinformatics, AI and Digital Sciences Institute, Faculty of Computer Science, HSE University, Moscow, Russia.
Background: Polygenic risk score (PRS) prediction is widely used to assess the risk of diagnosis and progression of many diseases. Routinely, the weights of individual SNPs are estimated by the linear regression model that assumes independent and linear contribution of each SNP to the phenotype. However, for complex multifactorial diseases such as Alzheimer's disease, diabetes, cardiovascular disease, cancer, and others, association between individual SNPs and disease could be non-linear due to epistatic interactions.
View Article and Find Full Text PDFFront Psychiatry
January 2025
Institut d'investigacions Biomèdiques August Pi i Sunyer (IDIBAPs), Barcelona, Spain.
The application of personalized medicine in patients with first-episode psychosis (FEP) requires tools for classifying patients according to their response to treatment, considering both treatment efficacy and toxicity. However, several limitations have hindered its translation into clinical practice. Here, we describe the rationale, aims and methodology of (the FarmaPRED-PEP project), which aims to develop and validate predictive algorithms to classify FEP patients according to their response to antipsychotics, thereby allowing the most appropriate treatment strategy to be selected.
View Article and Find Full Text PDFBMC Med
January 2025
Med-X Center for Informatics, Sichuan University, Chengdu, China.
Background: Adverse life experiences have been associated with increased susceptibilities to psychopathology in later life. However, their impact on psychological responses following physical trauma remains largely unexplored.
Methods: Based on the China Severe Trauma Cohort, we conducted a cohort study of 2937 patients who were admitted to the Trauma Medical Center of West China Hospital between June 2020 and August 2023.
J Transl Med
January 2025
Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), Singapore, 138672, Republic of Singapore.
Background: Risk-based breast cancer screening offers a more targeted and potentially cost-effective approach in cancer detection compared to age-based screening. This study aims to understand women's preferences and willingness for undergoing risk assessment tests.
Methods: A discrete choice experiment (DCE) was conducted.
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