UK Biobank Showcases Early 'Exciting' Data

Peter Russell

October 11, 2018

Two papers in the journal Nature have given an early insight into how genetics has begun to transform health research.

Both papers drew on data from the UK Biobank, a repository of genetic and clinical data from around 500,000 individuals, who were aged between 40 and 69 when they were recruited to the project between 2006 and 2010.

Participants provided blood, urine, and saliva samples for long-term storage and analysis, including genetic analysis, and agreed to have their health followed for many years.

New Statistical Analysis of Genetic Variations

The first paper announced the release of genetic data from 488,377 participants of the UK Biobank. In a culmination of several years' work, a consortium of experts, led by the University of Oxford, have applied new statistical techniques to genetic information.

"On each of these people we ran an assay, or as we call it, a ChIP, that measures approximately 800,000 positions of the genome," said Dr Jonathan Marchini from the Wellcome Centre for Human Genetics at Oxford University, and one of the lead researchers in the project. "This really encapsulates the genetic variation that these people have and allows us then to build on that, to link that data to health outcomes."

That 800,000 figure represents just a fraction of the 3.2 billion positions, but Dr Marchini said they had been chosen carefully to capture the majority of genetic variations in participants. "Also, in this project we used statistical methods to increase that number up to around 96 million," he said.

The data will allow researchers to investigate 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 diseases.

It may also lead to new treatments and preventative measures.

Professor Peter Donnelly from Oxford's Wellcome Centre for Human Genetics said: "The scale of the data was vast, and we did lots of sanity checks of it. But what is exciting is that there will be really clever scientists who will exploit these data to improve human health and healthcare in ways that currently we can't imagine."

Genetic Insights Into the Brain

The second Nature paper announced new insights into the relationship between genes and the largely unknown genetic architecture of brain structure and function. Researchers analysed genetic and MRI brain scan data from 8428 individuals. In particular, they carried out 3144 different measures of brain structure and function, resulting in the discovery of more than 100 areas of the human genome that influence the brain.

Professor Steve Smith from Oxford's Wellcome Trust Centre for Integrative Neuroimaging, who led the study, said: "We have had a tantalising glimpse of what could be. 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."

Among the main findings were:

  • 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

  • An understanding of 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

  • The effect of the ROBO3 gene on the brain's white matter pathways and where mutations can affect development of the pathways that allow one side of the brain to connect to the other

  • An improved understanding of the effect of genes in the brain that have been linked to both early-life brain development and mental health disorders, such as depression and schizophrenia

"We have found a genetic fingerprint on 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 them," said Prof Smith. 

He said the researchers were excited about their findings because they might lead to improvements in treatment for a wide range of brain disorders.

'The NHS Will Benefit'

Sara Marshall, head of clinical research and physiological sciences at Wellcome, said: "The research published today brings together a combination of genetic and brain imaging data at an unparalleled scale, and allows us to ask questions about common brain disorders such as Parkinson's disease, depression and Alzheimer's disease in a completely new way.

"It is exciting to see the potential of this powerful resource being realised."

Prof Sir Mark Walport, chief executive of UK Research and Innovation (UKRI) said: "The data from UK Biobank is fuelling a new era of genetic medicine. The NHS will be amongst the leading beneficiaries."

The UK Biobank resource with deep phenotyping and genomic data. Nature volume 562, pages203–209 (2018), Abstract

Genome-wide association studies of brain imaging phenotypes in UK Biobank. Nature volume 562, pages210–216 (2018). Abstract.


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