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Riccardo E. Marioni
University of Edinburgh
Genome-wide association studyCognitionDNA methylationGeneticsBiology
216Publications
40H-index
6,283Citations
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Publications 237
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#1Robert F. HillaryH-Index: 3
view all 19 authors...
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#1Christoph B. Messner (Francis Crick Institute)H-Index: 3
#2Vadim Demichev (Francis Crick Institute)H-Index: 1
Last. Marco Kreidl (Francis Crick Institute)
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The COVID-19 pandemic is an unprecedented global challenge. Highly variable in its presentation, spread and clinical outcome, novel point-of-care diagnostic classifiers are urgently required. Here, we describe a set of COVID-19 clinical classifiers discovered using a newly designed low-cost high-throughput mass spectrometry-based platform. Introducing a new sample preparation pipeline coupled with short-gradient high-flow liquid chromatography and mass spectrometry, our methodology facilitates c...
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#1Shuxia Li (University of Southern Denmark)H-Index: 10
#2Jesper Lund (University of Southern Denmark)H-Index: 2
Last. Riccardo E. Marioni (Edin.: University of Edinburgh)H-Index: 40
view all 12 authors...
BACKGROUND: Large numbers of autosomal sites are found differentially methylated in the aging genome. Due to analytical difficulties in dealing with sex differences in X-chromosome content and X-inactivation (XCI) in females, this has not been explored for the X chromosome. METHODS: Using data from middle age to elderly individuals (age 55+ years) from two Danish cohorts of monozygotic twins and the Scottish Lothian Birth Cohort 1921, we conducted an X-chromosome-wide analysis of age-associated ...
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#1Jure Mur (Edin.: University of Edinburgh)
#2Daniel L. McCartney (Edin.: University of Edinburgh)H-Index: 5
Last. Kathryn L. Evans (Edin.: University of Edinburgh)H-Index: 20
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Introduction: Genetic variation in the apolipoprotein E (APOE) gene is associated with Alzheimer's disease (AD) and risk factors for cardiovascular disease (CVD). DNA methylationat APOE has been associated with altered cognition and AD. It is unclear if epigenetic marks could be used for predicting future disease. Methods: We assessed blood-based DNA methylation at 13 CpGs in the APOE gene in 5828 participants from the Generation Scotland (GS) cohort. Using linear mixed models regression, we exa...
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#1Ryan Langdon (UoB: University of Bristol)H-Index: 4
#2Rhona Beynon (UoB: University of Bristol)H-Index: 2
Last. Caroline L. ReltonH-Index: 49
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BACKGROUND: DNA methylation (DNAm) variation is an established predictor for several traits. In the context of oropharyngeal cancer (OPC), where 5-year survival is ~ 65%, DNA methylation may act as a prognostic biomarker. We examined the accuracy of DNA methylation biomarkers of 4 complex exposure traits (alcohol consumption, body mass index [BMI], educational attainment and smoking status) in predicting all-cause mortality in people with OPC. RESULTS: DNAm predictors of alcohol consumption, BMI...
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#1Rosie M. Walker (Edin.: University of Edinburgh)H-Index: 9
#2Mairead Lesley Bermingham (Edin.: University of Edinburgh)H-Index: 12
Last. Caroline Hayward (Edin.: University of Edinburgh)H-Index: 95
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INTRODUCTION: Dementia pathogenesis begins years before clinical symptom onset, necessitating the understanding of premorbid risk mechanisms. Here, we investigated potential pathogenic mechanisms by assessing DNA methylation associations with dementia risk factors in Alzheimer9s disease (AD)-free participants. METHODS: Associations between dementia risk measures (family history, genetic risk score (GRS), and dementia risk scores (combining lifestyle, demographic and genetic factors) and whole-bl...
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#1Anne Seeboth (Edin.: University of Edinburgh)H-Index: 1
#2Daniel L. McCartney (Edin.: University of Edinburgh)H-Index: 5
Last. Sara Haegg (KI: Karolinska Institutet)H-Index: 22
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BACKGROUND: DNA methylation outlier burden has been suggested as a potential marker of biological age. An outlier is typically defined as DNA methylation levels at any one CpG site that are three times beyond the inter-quartile range from the 25th or 75th percentiles compared to the rest of the population. DNA methylation outlier burden (the number of such outlier sites per individual) increases exponentially with age. However, these findings have been observed in small samples. RESULTS: Here, w...
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#1Jesper Lund (University of Southern Denmark)H-Index: 2
#2Shuxia Li (University of Southern Denmark)H-Index: 10
Last. Qihua Tan (University of Southern Denmark)H-Index: 32
view all 10 authors...
Overall or all-cause mortality is a key measure of health in a population. Multiple epigenome-wide association studies have been conducted on all-cause mortality with limited significant findings and low replication. In order to elucidate the co-regulated DNA methylation patterns associated with all-cause mortality, we conducted a weighted DNA methylation co-regulation network analysis on whole-blood samples of 1,425 older individuals from the Lothian Birth Cohorts of 1921 and 1936. Our network-...
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#1Ruth Sibbett (Edin.: University of Edinburgh)H-Index: 4
#2Drew Altschul (Edin.: University of Edinburgh)H-Index: 5
Last. Tom C. Russ (Edin.: University of Edinburgh)H-Index: 18
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BACKGROUND: Previous studies have demonstrated an association between DNA methylation-based measures of accelerated ageing and age-related health outcomes and mortality. As a disease closely associated with advancing age, we hypothesized that DNA methylation-based measures of accelerated ageing might be associated with risk for dementia. This study therefore aimed to examine the association between four recognised measures of age acceleration and subsequent dementia. METHODS: Study subjects (n =...
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#1V. Kartik Chundru (UQ: University of Queensland)
#2Riccardo E. Marioni (Edin.: University of Edinburgh)H-Index: 40
Last. Peter M. Visscher (UQ: University of Queensland)H-Index: 109
view all 12 authors...
Testing the effect of rare variants on phenotypic variation is difficult due to the need for extremely large cohorts to identify associated variants given expected effect sizes. An alternative approach is to investigate the effect of rare genetic variants on low-level genomic traits, such as gene expression or DNA methylation (DNAm), as effect sizes are expected to be larger for low-level compared to higher-order complex traits. Here, we investigate DNAm in healthy ageing populations - the Lothi...
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