- Large-Scale Epigenetic Dataset: Study will measure DNA methylation across more than one million genomic sites.
- UK Biobank Research Expansion: Project adds epigenetic data to biological, genetic, imaging and lifestyle records.
- Disease Prediction Potential: Findings may support biomarkers for earlier detection, prevention and personalised medicine.
A major epigenetics study using samples from UK Biobank is set to add a new molecular layer to one of the world’s largest biomedical research resources.
Backed by £16 million in funding, the University of Exeter-led project will analyse DNA methylation in blood samples from 60,000 UK Biobank participants. The study is expected to support research into heart disease, dementia, mental health, cancer, ageing and other health outcomes.
UK Biobank has collected biological samples, health data and lifestyle information from 500,000 UK volunteers over the past two decades. Its de-identified data are made available to approved researchers worldwide for public-interest health research.
The new study will add large-scale epigenetic information to existing genomic, proteomic, imaging, clinical and questionnaire data, helping researchers examine how gene regulation interacts with environment and disease risk.
DNA Methylation Adds a New Data Layer
Epigenetics refers to molecular mechanisms that influence how and when genes are expressed without changing the underlying DNA sequence. DNA methylation, one of the best-studied epigenetic processes, involves chemical modifications that can switch genes on or off.
By measuring DNA methylation at more than one million sites across the genome, the study will generate a population-scale map of gene regulation. Researchers will use this information to explore links between methylation patterns, environmental exposures and disease development.
The project has scope for future expansion, with the long-term ambition of profiling all 500,000 UK Biobank participants.
Jonathan Mill, Professor of Epigenomics at the University of Exeter and Director of the UK Functional Genomics Initiative, said, “The generous funding for this study will enable us to provide a step-change in our ability to understand disease.”
He added that integrating epigenetic data with UK Biobank’s clinical, imaging, genetic and environmental information could help map how disease risk changes over the life course and create opportunities for earlier detection, prevention and more precise treatments.
Dataset Could Strengthen Biomarker Research
The addition of epigenetic data is expected to improve disease prediction by identifying DNA methylation signatures linked to early biological changes. These signatures may support the development of blood-based biomarkers for early detection and intervention.
The study may also help identify new treatment targets by revealing genes and biological pathways regulated by epigenetic mechanisms in disease. Researchers could use the dataset to investigate how environmental factors such as diet, pollution, stress, medication and smoking influence biological function.
Professor Naomi Allen, Chief Scientist at UK Biobank, said, “UK Biobank’s extensive genetic, proteomic, imaging and questionnaire data are already revealing how our genes, lifestyle and environment influence our risk of remaining healthy, or developing disease.”
She said the new epigenetic dataset would add another layer of detail to participant health data and help researchers identify epigenetic changes that may act as disease markers.
Collaborative Funding Supports Public Health Research
The study is supported by major philanthropic funding from the Novo Nordisk Foundation, with additional support from Illumina, which developed the assay technology used to characterise epigenetic variation across the genome.
Mark Robinson, VP and General Manager for UK and Ireland and Northern Europe at Illumina, said, “Technological advances are making it possible to generate epigenetic data at unprecedented scale and resolution.”
Tanja Xenia Pedersen, Vice President at the Novo Nordisk Foundation, said the project reflects the large-scale collaborative science needed to address complex diseases, including cardiometabolic conditions.
Sir Sajid Javid, former UK Health Secretary and Chair of the University of Exeter philanthropic campaign, said, “This study promises tremendous potential for individual patients and society at large – here and across the world.”
For biobanking professionals, the project highlights the growing value of biospecimen-linked multi-omics datasets. By connecting DNA methylation data with long-term clinical and lifestyle information, UK Biobank will provide researchers with a broader platform for studying disease mechanisms, biomarker discovery and precision medicine.
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