Maria Sobczyk
A5102716650- Dermatology and Skin Diseases
- Genetic Associations and Epidemiology
- Asthma and respiratory diseases
- Genetics, Bioinformatics, and Biomedical Research
- Advanced Algorithms and Applications
- Epigenetics and DNA Methylation
- IL-33, ST2, and ILC Pathways
- Advanced Sensor and Control Systems
- Astronomical Observations and Instrumentation
- Genomics and Rare Diseases
- Vitamin C and Antioxidants Research
- Molecular Biology Techniques and Applications
- Sensor Technology and Measurement Systems
- Cerebrovascular and Carotid Artery Diseases
- Cardiovascular Function and Risk Factors
- Nutrition, Genetics, and Disease
- Genetic Syndromes and Imprinting
- Bioinformatics and Genomic Networks
- Single-cell and spatial transcriptomics
- Vitamin K Research Studies
- Cardiac Imaging and Diagnostics
- Trace Elements in Health
- Transgenic Plants and Applications
- Cell Image Analysis Techniques
- Cytokine Signaling Pathways and Interactions
University of Bristol
2020-2023
Medical Research Council
2022-2023
University of California, Los Angeles
2020
Abstract Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity mortality. Consequently, identification of genetic environmental contributors to the variation in these measures populations has become a major goal field. Results Leveraging SNP more than 40,000 individuals, we identify 137 genome-wide significant loci, which 113 novel, association study (GWAS) meta-analyses four epigenetic clocks surrogate markers for granulocyte...
Background & Aims: Previous results from observational, interventional studies and in vitro experiments suggest that certain micronutrients possess anti-viral immunomodulatory activities. In particular, it has been hypothesized zinc, selenium, copper vitamin K1 have strong potential for prophylaxis treatment of COVID-19. We aimed to test whether genetically predicted Zn, Se, Cu or levels a causal effect on COVID-19 related outcomes, including risk infection, hospitalization critical illness....
To scope the potential for (semi)-automated triangulation of Mendelian randomisation (MR) and randomised controlled trials (RCTs) evidence since two methods have distinct assumptions that make comparisons between their results invaluable.
Gene prioritization at human GWAS loci is challenging due to linkage-disequilibrium and long-range gene regulatory mechanisms. However, identifying the causal crucial enable identification of potential drug targets better understanding molecular Mapping traits known phenotypically relevant Mendelian disease genes near a locus promising approach prioritization.We present MendelVar, comprehensive tool that integrates knowledge from four databases on with enrichment testing for range associated...
GWASs for atopic dermatitis have identified 25 reproducible loci. We attempt to prioritize the candidate causal genes at these loci using extensive molecular resources compiled into a bioinformatics pipeline. list of 103 etiology, including expression, protein, and DNA methylation quantitative trait datasets in skin or immune-relevant tissues, which were tested overlap with GWAS signals. This was combined functional annotation regulatory variant prediction features such as promoter‒enhancer...
Abstract Biological ageing estimators derived from DNA methylation (DNAm) data are heritable and correlate with morbidity mortality. Leveraging DNAm SNP >41,000 individuals, we identify 137 genome-wide significant loci (113 novel) meta-analyses of four epigenetic clocks surrogate markers for granulocyte proportions plasminogen activator inhibitor 1 levels, respectively. We report strong genetic correlations longevity lifestyle factors such as smoking, education, obesity. Significant...
Background: Immune-mediated diseases (IMD) encompass a wide range of autoimmune and inflammatory disorders with aetiology related to immune system dysfunction, signifying disease area great potential for drug repurposing. In this study, we employed the genetically informed Mendelian Randomization (MR) method two distinct exposure types: blood cell abundance protein quantitative trait loci (pQTL) validate repurpose 834 targets which have been investigated IMD treatment. Methods: Utilizing...
Abstract Gene prioritisation at GWAS loci necessities careful assembly and examination of different types molecular evidence to arrive a set plausible candidates. In many human traits, common small-effect mutations may subtly dysregulate the function very same genes which are impacted by rare, large-effect causing Mendelian disease similar phenotype. However, information on gene-Mendelian associations, rare pathogenic driving disease, phenotype ontology is dispersed across data sources does...
Abstract Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies have identified 71 associated loci. In the current study we conducted largest AD GWAS to date (discovery N=1,086,394, replication N=3,604,027), combining previously reported cohorts with additional available data. We 81 loci (29 novel) in European-only analysis 15 multi-ancestry (6 novel). All variants replicated separate European analysis. Eleven from at least one of populations...
ABSTRACT Background Previous results from observational, interventional studies and in vitro experiments suggest that certain micronutrients have anti-viral immunomodulatory activities. In particular, it has been hypothesized zinc, selenium, copper vitamin K 1 strong potential for prophylaxis treatment of COVID-19. Objectives We aimed to test whether genetically predicted Zn, Se, Cu or levels a causal effect on COVID-19 related outcomes: risk infection, hospitalization critical illness....
Abstract Background Genome-wide association studies for atopic dermatitis (AD, eczema) have identified 25 reproducible loci associated in populations of European descent. We attempt to prioritise candidate causal genes at these using a multifaceted bioinformatic approach and extensive molecular resources compiled into novel pipeline: ADGAPP (Atopic Dermatitis GWAS Annotation & Prioritisation Pipeline). Methods comprehensive list 103 accessible AD aetiology, including expression, protein...