Gemma Shireby
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View article: A methylome-wide association study of major depression with out-of-sample case–control classification and trans-ancestry comparison
A methylome-wide association study of major depression with out-of-sample case–control classification and trans-ancestry comparison Open
Major depression (MD) is a leading cause of global disease burden, and both experimental and population-based studies suggest that differences in DNA methylation may be associated with the condition. However, previous DNA methylation studi…
View article: The association between parental BMI and offspring adiposity: A genetically informed analysis of trios
The association between parental BMI and offspring adiposity: A genetically informed analysis of trios Open
Background Children with obesity are more likely to have parents with obesity than those without. Several environmental explanations have been proposed for this correlation, including foetal programming and parenting practices. However, bo…
View article: Data Resource Profile: Genomic data in multiple British birth cohorts (1946–2001)—linkage with health, social, and environmental data from birth to old age
Data Resource Profile: Genomic data in multiple British birth cohorts (1946–2001)—linkage with health, social, and environmental data from birth to old age Open
View article: Genetic associations with education have increased over time and are patterned by socioeconomic background: a cross-cohort analysis of three British studies born 1946 to 1970
Genetic associations with education have increased over time and are patterned by socioeconomic background: a cross-cohort analysis of three British studies born 1946 to 1970 Open
Social scientists have long sought to investigate whether the predictors of educational attainment have changed across time. Here, we provide new insights by incorporating genetic predictors of education in three nationally representative …
View article: Interrogating DNA methylation associated with Lewy body pathology in a cross brain-region and multi-cohort study
Interrogating DNA methylation associated with Lewy body pathology in a cross brain-region and multi-cohort study Open
Lewy body (LB) diseases are an umbrella term encompassing a range of neurodegenerative conditions all characterized by the hallmark of intra-neuronal α-synuclein associated with the development of motor and cognitive dysfunction. In this s…
View article: Exome sequencing of UK birth cohorts
Exome sequencing of UK birth cohorts Open
Birth cohort studies involve repeated surveys of large numbers of individuals from birth and throughout their lives. They collect information useful for a wide range of life course research domains, and biological samples which can be used…
View article: Data Resource Profile: Genomic Data in Multiple British Birth Cohorts (1946-2001)—Health, Social, and Environmental Data from Birth to Old Age
Data Resource Profile: Genomic Data in Multiple British Birth Cohorts (1946-2001)—Health, Social, and Environmental Data from Birth to Old Age Open
Birth cohort studies have a rich history of contributing to science across disciplinary fields, notably health and social sciences. Here, we introduce a curated resource comprising genomic data from five British birth cohort studies—longit…
View article: Genetic Risk for High Body Mass Index Before and Amidst the Obesity Epidemic: Cross-Cohort Analysis of Four British Birth Cohort Studies
Genetic Risk for High Body Mass Index Before and Amidst the Obesity Epidemic: Cross-Cohort Analysis of Four British Birth Cohort Studies Open
Obesity is a highly heritable trait, but rising obesity rates over the past five decades suggest environmental change is also of profound importance. We conducted a cross-cohort analysis to examine how associations between genetic risk for…
View article: Blood‐based multivariate methylation risk score for cognitive impairment and dementia
Blood‐based multivariate methylation risk score for cognitive impairment and dementia Open
INTRODUCTION The established link between DNA methylation and pathophysiology of dementia, along with its potential role as a molecular mediator of lifestyle and environmental influences, positions blood‐derived DNA methylation as a promis…
View article: Genetic architecture of epigenetic cortical clock age in brain tissue from older individuals: alterations in <i>CD46</i> and other loci
Genetic architecture of epigenetic cortical clock age in brain tissue from older individuals: alterations in <i>CD46</i> and other loci Open
The cortical epigenetic clock was developed in brain tissue as a biomarker of brain aging. As one way to identify mechanisms underlying aging, we conducted a GWAS of cortical age. We leveraged postmortem cortex tissue and genotyping array …
View article: Exome sequencing of UK birth cohorts
Exome sequencing of UK birth cohorts Open
Birth cohort studies involve repeated surveys of large numbers of individuals from birth and throughout their lives. They collect information useful for a wide range of life course research domains, and biological samples which can be use…
View article: The Association Between Parental BMI and Offspring Adiposity: A Genetically Informed Analysis of Trios
The Association Between Parental BMI and Offspring Adiposity: A Genetically Informed Analysis of Trios Open
Background Children with obesity are more likely to have parents with obesity, too. Several environmental explanations have been proposed for this correlation, including foetal programming, and parenting practices. However, body mass index…
View article: Accelerated Pace of Aging in Schizophrenia: Five Case-Control Studies
Accelerated Pace of Aging in Schizophrenia: Five Case-Control Studies Open
View article: A methylome-wide association study of major depression with out-of-sample case-control classification and trans-ancestry comparison
A methylome-wide association study of major depression with out-of-sample case-control classification and trans-ancestry comparison Open
Major Depression (MD) is a leading cause of global disease burden, and both experimental and population-based studies suggest that differences in DNA methylation (DNAm) may be associated with the condition. However, previous DNAm studies h…
View article: Blood-based multivariate methylation risk score for cognitive impairment and dementia
Blood-based multivariate methylation risk score for cognitive impairment and dementia Open
INTRODUCTION Given the established association between DNA methylation and the pathophysiology of dementia and its plausible role as a molecular mediator of lifestyle and environment, blood-derived DNA methylation data could enable early d…
View article: Uncertainty quantification of reference-based cellular deconvolution algorithms
Uncertainty quantification of reference-based cellular deconvolution algorithms Open
The majority of epigenetic epidemiology studies to date have generated genome-wide profiles from bulk tissues (e.g., whole blood) however these are vulnerable to confounding from variation in cellular composition. Proxies for cellular comp…
View article: Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue
Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue Open
Aims Epigenetic clocks are widely applied as surrogates for biological age in different tissues and/or diseases, including several neurodegenerative diseases. Despite white matter (WM) changes often being observed in neurodegenerative dise…
View article: Uncertainty quantification of reference-based cellular deconvolution algorithms
Uncertainty quantification of reference-based cellular deconvolution algorithms Open
The majority of epigenetic epidemiology studies to date have generated genome-wide profiles from bulk tissues (e.g., whole blood) however these are vulnerable to confounding from variation in cellular composition. Proxies for cellular comp…
View article: Machine learning-based prediction of cognitive outcomes in de novo Parkinson’s disease
Machine learning-based prediction of cognitive outcomes in de novo Parkinson’s disease Open
View article: DNA methylation signatures of Alzheimer’s disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types
DNA methylation signatures of Alzheimer’s disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types Open
View article: Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathology
Epigenome-wide association study of human frontal cortex identifies differential methylation in Lewy body pathology Open
View article: Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue
Epigenetic age acceleration is associated with oligodendrocyte proportions in MSA and control brain tissue Open
Aims Epigenetic clocks are widely applied as surrogates for biological age in different tissues and/or diseases, including several neurodegenerative diseases. Despite white matter (WM) changes often being observed in neurodegenerative dise…
View article: Uncertainty quantification of reference based cellular deconvolution algorithms
Uncertainty quantification of reference based cellular deconvolution algorithms Open
The majority of epigenetic epidemiology studies to date have generated genome-wide profiles from bulk tissues (e.g. whole blood) however these are vulnerable to confounding from variation in cellular composition. Proxies for cellular compo…
View article: Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays
Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays Open
Most epigenetic epidemiology to date has utilized microarrays to identify positions in the genome where variation in DNA methylation is associated with environmental exposures or disease. However, these profile less than 3% of DNA methylat…
View article: A comparison of blood and brain‐derived ageing and inflammation‐related DNA methylation signatures and their association with microglial burdens
A comparison of blood and brain‐derived ageing and inflammation‐related DNA methylation signatures and their association with microglial burdens Open
Inflammation and ageing‐related DNA methylation patterns in the blood have been linked to a variety of morbidities, including cognitive decline and neurodegenerative disease. However, it is unclear how these blood‐based patterns relate to …
View article: DNA methylation signatures of Alzheimer’s disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types
DNA methylation signatures of Alzheimer’s disease neuropathology in the cortex are primarily driven by variation in non-neuronal cell-types Open
Alzheimer’s disease (AD) is a chronic neurodegenerative disease characterized by the progressive accumulation of amyloid-beta and neurofibrillary tangles of tau in the neocortex. Utilizing extensive neuropathology data from the Brains for …
View article: Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays
Evaluation of nanopore sequencing for epigenetic epidemiology: a comparison with DNA methylation microarrays Open
Most epigenetic epidemiology to date has utilized microarrays to identify positions in the genome where variation in DNA methylation is associated with environmental exposures or disease. However, these profile less than 3% of DNA methylat…
View article: Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS Open
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a p…
View article: Machine learning-based prediction of cognitive outcomes in de novo Parkinson’s disease
Machine learning-based prediction of cognitive outcomes in de novo Parkinson’s disease Open
Cognitive impairment is a debilitating symptom in Parkinson’s disease (PD). We aimed to establish an accurate multivariate machine learning (ML) model to predict cognitive outcome in newly diagnosed PD cases from the Parkinson’s Progressio…
View article: Machine learning-based prediction of cognitive outcomes in de novo Parkinson's disease
Machine learning-based prediction of cognitive outcomes in de novo Parkinson's disease Open
Cognitive impairment is a debilitating symptom in Parkinson’s disease (PD). We aimed to establish an accurate multivariate machine learning (ML) model to predict cognitive outcome in newly diagnosed PD cases from the Parkinson’s Progressio…