AIMC Topic: Genetic Predisposition to Disease
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Mitochondrial haplogroup A2 is associated with increased COVID-19 mortality in an admixed Brazilian population.
Scientific reports
Jul 1, 2025
Mitochondria play a crucial role in cellular respiration and immune responses. Mitochondrial DNA (mtDNA) haplogroups and variants have been associated with various diseases, including COVID-19. This study analyzed complete mtDNA sequences from 467 Br...
Exploration of shared pathogenic factors and causative genes in early-stage endometrial cancer and osteoarthritis.
Scientific reports
Jul 1, 2025
Osteoarthritis (OA) has been implicated in the development and progression of early-stage endometrial cancer (EC), suggesting shared pathogenic factors between the two diseases. This study aimed to investigate the causal relationship between OA and E...
Case-control study combined with machine learning techniques to identify key genetic variations in GSK3B that affect susceptibility to diabetic kidney diseases.
BMC endocrine disorders
Jun 5, 2025
The role of genetic susceptibility in early warning and precise treatment of diabetic kidney disease (DKD) requires further investigation. A case-control study was conducted to evaluate the predictive effect of GSK3B genetic polymorphisms on the susc...
Screening of glioma susceptibility SNPs and construction of risk models based on machine learning algorithms.
BMC neurology
Jun 5, 2025
BACKGROUND: Glioma is a common primary malignant brain tumor. This study aimed to develop a predictive model for glioma risk by these screened key SNPs in the Chinese Han population.
Epistasis regulates genetic control of cardiac hypertrophy.
Nature cardiovascular research
Jun 5, 2025
Although genetic variant effects often interact nonadditively, strategies to uncover epistasis remain in their infancy. Here we develop low-signal signed iterative random forests to elucidate the complex genetic architecture of cardiac hypertrophy, u...
Humans
Phenotype
Female
Genome-Wide Association Study
Gene Regulatory Networks
Genetic Predisposition to Disease
Magnetic Resonance Imaging
Aged
Male
Middle Aged
Deep Learning
Connectin
Myocytes, Cardiac
Receptor, IGF Type 1
Hypertrophy, Left Ventricular
Heart Failure
Epistasis, Genetic
Ventricular Remodeling
Induced Pluripotent Stem Cells
Performance of deep-learning-based approaches to improve polygenic scores.
Nature communications
Jun 2, 2025
Polygenic scores, which estimate an individual's genetic propensity for a disease or trait, have the potential to become part of genomic healthcare. Neural-network based deep-learning has emerged as a method of intense interest to model complex, nonl...
PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants.
Human genetics
May 29, 2025
Reliable prediction of pathogenic variants plays a crucial role in personalized medicine, which aims to provide accurate diagnosis and individualized treatment using genomic medicine. This study introduces PRP, a pathogenic risk prediction for rare n...
Bridging Genomic Research Disparities in Osteoporosis GWAS: Insights for Diverse Populations.
Current osteoporosis reports
May 24, 2025
PURPOSE OF REVIEW: Genome-wide association studies (GWAS) have significantly advanced osteoporosis research by identifying genetic loci associated with bone mineral density (BMD) and fracture risk. However, disparities persist due to the underreprese...
Gene-Environment Interaction
Osteoporotic Fractures
African People
Low Density Lipoprotein Receptor-Related Protein-5
Genetic Predisposition to Disease
Core Binding Factor Alpha 1 Subunit
Asian People
White People
Osteoporosis
Genome-Wide Association Study
Genomics
Humans
Machine Learning
Bone Density
CoupleMDA: Metapath-Induced Structural-Semantic Coupling Network for miRNA-Disease Association Prediction.
International journal of molecular sciences
May 21, 2025
The prediction of microRNA-disease associations (MDAs) is crucial for understanding disease mechanisms and biomarker discovery. While graph neural networks have emerged as promising tools for MDA prediction, existing methods face critical limitations...
Ge-SAND: an explainable deep learning-driven framework for disease risk prediction by uncovering complex genetic interactions in parallel.
BMC genomics
May 1, 2025
BACKGROUND: Accurate genetic risk prediction and understanding the mechanisms underlying complex diseases are essential for effective intervention and precision medicine. However, current methods often struggle to capture the intricate and subtle gen...
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