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HLA-DQB1*05:03 is associated with an increased risk of COVID-19 progression in the Bulgarian population.
Hum Immunol
January 2025
Medical University - Sofia, Medical Faculty, Department of Clinical Immunology, Bulgaria; University Hospital Alexandrovska, Clinic of Clinical Immunology and Stem Cell Bank, Bulgaria.
The SARS-CoV-2 outbreak represents a global health problem. The different infection rates are heavily influenced by host genetic factors, such as variability in the HLA region. The aim of our study was to investigate whether certain HLA alleles in the Bulgarian population contribute to COVID-19 progression and their role in anti-SARS-CoV-2 immunity.
View Article and Find Full Text PDFIntegrated Mendelian Randomization and Single-Cell Transcriptomics Analysis Identifies Critical Blood Biomarkers and Potential Mechanisms in Epilepsy.
CNS Neurosci Ther
January 2025
Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China.
Background: Epilepsy has a genetic predisposition, yet causal factors and the dynamics of the immune environment in epilepsy are not fully understood.
Methods: We analyzed peripheral blood samples from epilepsy patients, identifying key genes associated with epilepsy risk through Mendelian randomization, using eQTLGen and genome-wide association studies. The peripheral immune environment's composition in epilepsy was explored using CIBERSORT.
Exploring Molecular Genetics Research on Obesity in Malaysia: Protocol for a Scoping Review.
JMIR Res Protoc
December 2024
Endocrine and Metabolic Unit, Nutrition, Metabolism and Cardiovascular Research Centre, Institute for Medical Research, National Institutes of Health, Ministry of Health Malaysia, Selangor, Malaysia.
Background: Obesity presents a growing challenge to public health, and its intricate association with genetics continues to be a compelling field of study. In countries such as Malaysia, where diverse genetic backgrounds converge, exploring the molecular genetics of obesity is even more imperative.
Objective: This scoping review aimed to explore the literature on molecular genetics of obesity in Malaysia.
Systematic functional characterization of non-coding regulatory SNPs associated with central obesity.
Am J Hum Genet
January 2025
Key Laboratory of Biomedical Information Engineering of Ministry of Education, Key Laboratory of Biology Multiomics and Diseases in Shaanxi Province Higher Education Institutions, Biomedical Informatics & Genomics Center, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, Shaanxi, China. Electronic address:
Central obesity is associated with higher risk of developing a wide range of diseases independent of overall obesity. Genome-wide association studies (GWASs) have identified more than 300 susceptibility loci associated with central obesity. However, the functional understanding of these loci is limited by the fact that most loci are in non-coding regions.
View Article and Find Full Text PDFPotential associations of selected polymorphic genetic variants with COVID-19 disease susceptibility and severity.
PLoS One
January 2025
Institute of Molecular Life Sciences, HUN-REN Research Centre for Natural Sciences, Budapest, Hungary.
In this study, we analyzed the potential associations of selected laboratory and anamnestic parameters, as well as 12 genetic polymorphisms (SNPs), with clinical COVID-19 occurrence and severity in 869 hospitalized patients. The SNPs analyzed by qPCR were selected based on population-wide genetic (GWAS) data previously indicating association with the severity of COVID-19, and additional SNPs that have been shown to be important in cellular processes were also examined. We confirmed the associations of COVID-19 with pre-existing diabetes and found an unexpected association between less severe disease and the loss of smell and taste.
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