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Brain scans from an MRI machine

UKB brain imaging and genetics studies to 'transform' health research

10 Oct 2018

Two papers in Nature this week focus on how UK Biobank genetics and imaging data are transforming health research.

In one paper, researchers report on a pioneering study that combined 10,000 UK Biobank MR brain images with genetics data from all 500,000 participants.

The team found a genetic link for some of the most fundamental processes that allow us to think, act and function, from the size of the parts of the central nervous system that control sight, hearing, speech, emotions and actions, to the integrity of the communications channels between them and the strength of the signals within. The results will provide a huge impetus to new research for a wide range of degenerative and psychiatric disorders and ultimately improve treatments.

The work is funded primarily by the MRC and the Wellcome Trust.

Revolutionising our understanding of complex brain disorders

“We have had a tantalising glimpse of what could be,” said Professor Steve Smith, University of Oxford, who led the study. “These game-changing data stored within the UK Biobank resource, and growing in size and value all the time, will revolutionise our understanding of complex brain disorders.”

With 20,000 more participants already scanned and 70,000 still to go UK Biobank would transform understanding. In particular, the researchers studied 3,144 different measures of brain structure and function, resulting in the discovery of more than 100 areas of the human genome that influence the brain:

  • Results revealed the effects of genes coding for a “scaffold for tissue healing” in white matter pathways, affecting diseases such as multiple sclerosis, stroke and motor neuron disease. This scaffold is crucial for the growth of white matter in early life, and for the white matter to heal itself from damage by disease.
  • The researchers mapped for the first time the signature of genetic influences on iron deposits in the brain, for genes related to neurodegenerative disorders such as Parkinson’s disease and Alzheimer’s disease. Researchers hope the work will lead to new insight into how these diseases progress and damage mental capacity, and also help generate new imaging-based ways to evaluate disease treatments in the future.
  • Another finding relates to the effect of the ROBO3 gene on the brain’s white matter pathways. Mutations in the gene mean that pathways that normally connect one side of the brain to the other do not develop properly. This can result in gaze palsy, a disorder which affects the movement of the eyes. It was found that the UK Biobank brain imaging is able to non-invasively localise the effects of this gene to exactly the pathways affected in this disorder.
  • The work also localised effects in the brain of genes that have been linked to both early-life brain development and mental health disorders such as depression and schizophrenia.

One of the largest and most comprehensive studies of population health in the world

There was praise for the work from UKRI Chief Executive Professor Sir Mark Walport, who commented: “UK Biobank is one of the largest and most comprehensive studies of population health in the world. Genetic variation helps to explain important differences between people in health and disease. This largest ever investigation of the genetic basis of brain structure and function will provide unrivalled insights into neurodegenerative and psychological disorders, including Parkinson’s and Alzheimer’s diseases, depression and schizophrenia.

“The scale of this study is quite extraordinary, looking at over 3,000 different measures of brain structure and function in 10,000 Biobank volunteers who have had MRI brain scans, and finding over 100 areas of the human genome that influence these. None of this could be achieved without the generosity and trust of the half million participants in UK Biobank, and the global leadership of the outstanding team that runs it and makes the data globally available. The data from UK Biobank is fuelling a new era of genetic medicine. The NHS will be amongst the leading beneficiaries.”

Whole genome genetic data of all 500,000 participants

Another paper, celebrated the release of whole genome genetic data of 500,000 participants of the UK Biobank, already being used by hundreds of researchers around the world.

The achievement was a culmination of several years’ work carried out by a consortium of genetics experts from Oxford and expertise based at UK Biobank’s Coordinating Centre in Cheadle.

Professor Rory Collins, UK Biobank principal investigator, said it meant that UK Biobank is enabling novel genetic health research worldwide.

“Thanks to the vision of UK Biobank’s funders, the altruism of the study participants and the contributions of a large number of scientists who have helped us along the way, UK Biobank is coming of age as a force in health research,” Professor Collins said. 

The data allow researchers to study a range of important questions such as the underlying genetics of disease, and the interactions between genetic and lifestyle factors, as well as using genetics to learn more about the biology of the diseases themselves, providing insights which can lead to new treatments and preventative measures.

Another important feature of the data is the imputation of different gene arrangements in the HLA region, the region of the genome responsible for many of the functions of our immune system. These variants are known to play a key role in many diseases but are difficult to measure directly, and so are unavailable in many other genetic studies.


  • Categories: Research
  • Health categories: Mental Health, Neurological
  • Locations: Oxford
  • Type: News article