The genomes of thousands of Britons have been used to identify rare genetic varients that raise the risk of illnesses including heart disease and obesity
The DNA of thousands of British people has been read and made available to researchers around the world to boost the search for genetic causes of disease.
The genomes of 4,000 healthy people are being shared with international scientists, along with detailed information on the participants’ height, weight, blood pressure, cholesterol levels and 60 other medical measurements.
A further 6,000 partial genomes obtained from people with different disorders, including autism and schizophrenia, are also being made available for researchers to pore over. These genomes include only the sections of DNA that the body uses to make proteins.
The DNA, gathered in the UK10K project, was used to identify rare genetic variants that raise the risk of a variety of diseases. Writing in the journal Nature, scientists report four new and rare risk factors for coronary heart disease and obesity.
“We are making all of these data available to the scientific community, which in terms of a resource is a quantum leap,” said Nicole Soranzo, a geneticist at the Wellcome Trust’s Sanger Institute in Cambridge. Among the scientists’ findings are 24 million new genetic variants from healthy Europeans, which reflect the genetic diversity of the population.
The aim of the UK10K project is to find rare DNA mutations that make people more likely to develop certain diseases. Though hundreds of genes have already been linked to different medical conditions, these tend to be the ones that have the largest impact on health. Researchers suspect many more mutations are waiting to be found, but are hard to identify because they are either very rare, or raise the risk of disease only marginally.
Soranzo said that while the project had proved the value of reading the genomes of several thousand people for some diseases, for complex medical conditions much larger numbers of people would need to have their genomes sequenced.
“The value of this data is really empowering next generation of genetic studies,” she said.
The genomes released by the UK10K project have already been used by scientists at McGill University in Montreal to identify a new genetic variant that affects bone mineral density, and so a person’s risk of developing osteoporosis. In a separate paper in Nature, Brent Richards at McGill reports the new, uncommon mutation that plays a role in the skeletal disease, which leaves people prone to suffering bone fractures.
Richard Durbin, a UK10K researcher at the Sanger Institute added: “In earlier studies either very rare variants with big effects or common variants, which usually only have small effects, could be analysed. Now we have been able to explore an increased part of the spectrum of variation in between the very rare and the common ones.”