A major epigenetics study using samples from UK Biobank will unlock new insights into the biological basis of human health and disease.
Backed by a £16 million investment, the research will transform how we understand, predict and treat health outcomes including heart conditions, dementia, mental health, cancer and ageing.
The study will be led by the University of Exeter with major philanthropic funding from the Novo Nordisk Foundation and additional support from Illumina, who have developed the technology used to characterise epigenetic variation across the genome.
UK Biobank is the world’s most comprehensive source of biomedical data available for health research in the public interest. Over the past 20 years they have collected biological, health and lifestyle information from 500,000 UK volunteers. These de-identified data are made available to approved researchers across the world to understand disease and improve public health. The unprecedented wealth of data is constantly added to, and this new epigenetic study will add a whole new layer of insight for researchers to examine how diseases develop.
What is epigenetics?
The study will generate an unprecedented map of how genes are regulated across the population, and how this links to environmental exposures and disease.
Epigenetics refers to the molecular mechanisms that regulate how and when genes are expressed, acting at the interface between the genome and the environment to shape biological function and disease risk over the life course. One key epigenetic process is DNA methylation, the addition of small methyl groups to DNA. These chemical modifications to our DNA switch genes on or off without changing the underlying genetic code.
By measuring DNA methylation at over one million sites across the genome in blood samples from 60,000 UK Biobank participants, the study will generate an unprecedented map of how genes are regulated across the population, and how this links to environmental exposures and disease. The study has scope for future expansion with long-term aims to profile all 500,000 UK Biobank participants.
The generous funding for this study will enable us to provide a step-change in our ability to understand disease. We will integrate epigenetic data with the extraordinary depth of information in UK Biobank, from detailed clinical information and imaging to genetics and environmental exposures.
Jonathan Mill, Professor of Epigenomics at the University of Exeter and Director of the UK Functional Genomics Initiative, a UK-wide program to explore gene function in health and disease
This means we can begin to map how disease risk is shaped over the life course opening up new opportunities for earlier detection, prevention and more precise treatments across a wide range of diseases.
Potential to transform disease research
UK Biobank has already transformed global biomedical research, enabling discoveries across heart disease, cancer, dementia and mental health. The addition of large-scale epigenetic data will dramatically enhance its value, creating a uniquely powerful resource for researchers worldwide. The study has the potential to transform disease research by:
- Improving disease prediction by identifying DNA methylation signatures linked to early biological changes, detectable through blood-based biomarkers.
- Identifying new treatment targets by revealing which genes and biological pathways are regulated by epigenetic processes in disease.
- Enabling prevention strategies by developing biomarkers that can guide early intervention and inform future clinical trials.
- Supporting personalised medicine by linking epigenetic variation to differences in gene expression and treatment response.
- Revealing how environment shapes disease, including the biological impact of factors such as diet, pollution, stress, medication and smoking.
- Identifying epigenetic predictors of other molecular measures available in UK Biobank such as protein levels and metabolites.
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.
Professor Naomi Allen, Chief Scientist at UK Biobank
It is fantastic that this new epigenetic dataset, with funding from the Novo Nordisk Foundation, will provide another layer of detail on our participants’ health and allow researchers to better pinpoint which epigenetic changes can act as markers of disease.
This work will complement the UK Government funded, long-read sequencing epigenetics project. Together they will vastly increase the availability of epigenetic information for public health research, all from samples from UK Biobank’s generous volunteers.
Technological advances are making it possible to generate epigenetic data at unprecedented scale and resolution. We are excited to support this effort, which will help unlock new insights into how gene regulation contributes to human disease.
Mark Robinson, VP and General Manager, UK & Ireland, and Northern Europe, Illumina who have developed the assays that will be used in this study
We are proud to support this ambitious initiative, which exemplifies the kind of large-scale, collaborative science needed to tackle complex diseases including cardiometabolic diseases. By investing in cutting-edge epigenetics research within a widely accessible resource like UK Biobank, this project has the potential to deliver substantial benefits for human health.
Tanja Xenia Pedersen, Vice President, from The Novo Nordisk Foundation, which provided major philanthropic funding for the study
This study promises tremendous potential for individual patients and society at large – here and across the world. By combining the best of UK scientific excellence, global biotechnology, and international philanthropy, we can harness the power of genomic sequencing and data analytics to transform our ability to predict and detect diseases. Partnerships like these are essential to creating a healthier future for everyone.
Sir Sajid Javid, former UK Health Secretary and now Chair of the University of Exeter philanthropic campaign
This press release was issued by the University of Exeter.
