The project has collected dense genetic data from across the whole genome for approximately 500,000 people, aged between 40 and 69 at the time of recruitment, from across the UK.
It combines genetic information with detailed health records in an open-source shared model for all researchers to understand how the human genetic code influences disease.
The health-related information includes biological measurements, lifestyle indicators, biomarkers in blood and urine and imaging of the body and brain. All participants provided consent to link to their electronic health records, which gives access to disease diagnoses, hospital admission and death records as the project progresses.
Associate professor Stephen Leslie, from the University of Melbourne and Murdoch Children’s Research Centre (MCRI), led the Australian research team.
“The UK Biobank will transform human genetics research, giving scientists around the world access to a rich sample of unprecedented size and scope on which to explore innumerable hypotheses relating genetics to biology and disease,” said associate professor Leslie.
He led a team comprising Dr Damjan Vukcevic, also from the University of Melbourne and MCRI, and Dr Allan Motyer from the University of Melbourne, to generate genetic data related to the immune system as well as quality testing these data.
Associate Professor Leslie said his team worked on typing the human leukocyte antigen (HLA) system that is a gene complex encoding crucial proteins in humans.
“These cell-surface proteins are a key component of the regulation of the immune system in humans and are therefore central to how the body responds to bacterial and viral infection,” he said.
“They are also associated with many autoimmune diseases like multiple sclerosis (MS) and celiac disease. The HLA genes are best known as the genes that are matched when doing tissue typing for transplantation.
“It is well-known that the HLA region provides protection or susceptibility to many diseases, so we set about typing or characterising these genes for the 500,000 participants in the Biobank project.”
The HLA genes are the most diverse part of the human genome.
Associate Professor Leslie said because the region is so diverse and complex, it is difficult and expensive to measure them directly, and so they are unavailable in many other genetic studies.
“We developed a method to simplify typing the HLA genes using inexpensive and easily obtained genetic markers such as those typed in the Biobank study,” he said.
“This means that, for the first time, these important genetic variants are available for the large sample sizes that are necessary to better understand the genetics of human disease.”