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25 November 2016

European researchers have revealed the findings of a major project that set out to investigate links between blood cell development and a range of disease.

One British team involved in the project found 2,500 previously undiscovered locations in the genome influencing blood cell characteristics.

The locations were linked to risk of heart attack, rheumatoid arthritis and common autoimmune diseases.

Some 30 million Euros has been spent at 42 European universities and other research centres on the project over five years.

Today 24 sets of findings from the work were unveiled in the journal Cell and in a range of other journals last night.

The British project, involving the Universities of Oxford and Cambridge and the Wellcome Trust Sanger Institute, come 30 million DNA sequence differences in 173,000 people, linking it to differences in the physical properties of red blood cells.

One finding was that genetic differences cause some people to have more red young blood cells in their peripheral bloodstreams - and this increased the risk of heart attack.

Genetic differences underlying the quantity of eosinophils were also linked to a range of diseases, including RA, asthma, coeliac disease and type 1 diabetes.

Researcher Dr William Astle, from Cambridge University, said: "Because we examined so many people we were able discover important ‘rare and low frequency’ genetic differences that are present in fewer than 10% of the population. We found that these can have a much larger impact on the characteristics of blood cells than the common differences studied previously.

"Of the more than 300 rare and low frequency difference we found, 74 appear to affect the structure of proteins. These give us important clues as to which biological pathways are involved in controlling the production, function and characteristics of blood cells.”

A second finding from the British teams found 345 areas of DNA linked to underlying predisposition to disease of the immune system.

Meanwhile scientists at the Babraham Institute, Cambridge, talked about the DNA analysis technique underlying the work. The Promoter Capture Hi-C technique identifies parts of the genome that physically contact and regulate genes, often using the folding of DNA found within cells that allows distance regions to contact each other.

Professor Jeremy Pearson, of the British Heart Foundation, which helped fund the research, said: "By taking advantage of a large scale international collaboration, involving the combined expertise of dozens of research groups, these unprecedented studies have uncovered potentially crucial knowledge for the development of new life saving treatments for heart disease and many other deadly conditions."

Professor John Todd, director of the Wellcome Trust Diabetes and Inflammation Laboratory, said: “These results are a giant leap in understanding the inherited and cellular origins of common diseases and in how the human genome works.”


The allelic landscape of human blood cell trait variation and links to common complex disease Cell 17 November 2016

Lineage specific genome architecture links disease variants to target genes Cell 17 November 2016


Link: http://dx.doi.org/10.1016/j.cell.2016.10.042

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