Using statistics to find the parts of the human genome that relate to our risk of heart and circulatory diseases

The BHF-Turing Cardiovascular Data Science Awards (First Call): Flexible fine-mapping of multiple intermediate traits at cardiovascular disease loci (joint funding with The Alan Turing Institute)

Around 130 regions of DNA in the human genetic code are known to have an effect on our risk of heart attacks or strokes. However, in most cases we don’t yet understand how the genes in these regions have these effects. One way to tackle this question is to look at what effect these DNA regions have on related human traits – for instance blood pressure – or what effect they have on levels of chemicals in the blood. But even then, it is difficult to know if a DNA region affects our disease risk by changing these traits, or if the trait and disease are changing independently. Dr Adam Butterworth and his team of researchers aim to develop a better way to understand how different genetic regions impact heart disease. The team intend to develop a new statistical tool that can overcome the limitations of the current methods. They will apply their technique to the 130 regions of the genome to try to identify new factors that influence our risk of heart and circulatory disease. By making the results of their analysis freely available, the data they produce will help identify opportunities to develop innovative new drugs. This could lead to the development of new heart attack and stroke medicines that are personalised according to our DNA.