Marta F. Nabais
A5078868001- Epigenetics and DNA Methylation
- Amyotrophic Lateral Sclerosis Research
- Genetic Associations and Epidemiology
- Genetic Syndromes and Imprinting
- Neurogenetic and Muscular Disorders Research
- Health, Environment, Cognitive Aging
- Cancer-related gene regulation
- Parkinson's Disease Mechanisms and Treatments
- Amino Acid Enzymes and Metabolism
- Bioinformatics and Genomic Networks
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Functional Brain Connectivity Studies
- Cerebrovascular and genetic disorders
- Nuclear Receptors and Signaling
- RNA Research and Splicing
The University of Queensland
2018-2023
University of Exeter
2018-2023
Exeter Hospital
2023
Research Institute for Bioscience and Biotechnology
2022
Royal Devon and Exeter Hospital
2020
The rapid increase of omic data has greatly facilitated the investigation associations between profiles such as DNA methylation (DNAm) and complex traits in large cohorts. Here, we propose a mixed-linear-model-based method called MOMENT that tests for association DNAm probe trait with all other distal probes fitted multiple random-effect components to account unobserved confounders. We demonstrate by simulations shows lower false positive rate more robustness than existing methods. been...
An improved understanding of etiological mechanisms in Parkinson's disease (PD) is urgently needed because the number affected individuals projected to increase rapidly as populations age. We present results from a blood-based methylome-wide association study PD involving meta-analysis 229 K CpG probes 1,132 cases and 999 controls two independent cohorts. identify previously unreported epigenome-wide significant associations with PD, including cg06690548 on chromosome 4. demonstrate that...
Most epigenome-wide association studies (EWAS) quantify DNA methylation (DNAm) in peripheral tissues such as whole blood to identify positions the genome where variation is statistically associated with a trait or exposure. As comprises mix of cell types, it unclear whether trait-associated DNAm specific an individual cellular population. We collected three (whole blood, buccal epithelial and nasal cells) from thirty individuals. Whole samples were subsequently processed using...
Abstract Background Amyotrophic lateral sclerosis (ALS) is a complex, late-onset, neurodegenerative disease with genetic contribution to liability. Genome-wide association studies (GWAS) have identified ten risk loci date, including the TNIP1 / GPX3 locus on chromosome five. Given analysis data alone cannot determine most plausible gene for this locus, we undertook comprehensive suite of in silico, vivo and vitro address this. Methods The Functional Mapping Annotation (FUMA) pipeline five...
We conducted DNA methylation association analyses using Illumina 450K data from whole blood for an Australian amyotrophic lateral sclerosis (ALS) case-control cohort (782 cases and 613 controls). Analyses used mixed linear models as implemented in the OSCA software. found a significantly higher proportion of neutrophils compared to controls which replicated independent Netherlands (1159 637 The MOMENT model has been shown simulations best account confounders. When combined profile score, 25...
Individuals encounter varying environmental exposures throughout their lifetimes. Some such as smoking are readily observed and have high personal recall; others more indirect or sporadic might only be inferred from long occupational histories lifestyles. We evaluated the utility of using lifetime-long self-reported for identifying differential methylation in an amyotrophic lateral sclerosis cases-control cohort 855 individuals. submitted paper-based surveys on exposure well whole blood...
Abstract The rapid increase of omic data in the past decades has greatly facilitated investigation associations between profiles such as DNA methylation (DNAm) and complex traits large cohorts. Here, we proposed a mixed-linear-model-based method (called MOMENT) that tests for association DNAm probe trait with all other distal probes fitted multiple random-effect components to account effects unobserved confounders well correlations induced by confounders. We demonstrated simulations MOMENT...
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability of around 50%. DNA methylation patterns can serve as biomarkers (past) exposures and progression, well providing potential mechanism that mediates genetic or environmental risk. Here, we present blood-based epigenome-wide association study (EWAS) meta-analysis in 10,462 samples (7,344 ALS patients 3,118 controls), representing the largest case-control for any to date. We...
Amyotrophic lateral sclerosis (ALS) is a complex late-onset, neurodegenerative disease with genetic contribution to liability. Genome-wide association studies have identified eleven risk loci date, including the TNIP1/GPX3 locus on chromosome five. Current analysis data alone cannot determine most plausible gene in this locus. Here, we undertake comprehensive suite of provide objective evidence support or reject relevance these two genes. We use bioinformatic integration omics reference...