Professor Adam Butterworth

Genetic determinants of cardiovascular disease and high-dimensional traits

Genetic discovery: My main focus is around the identification of genetic variation linked with coronary disease and related phenotypes using customised SNP arrays. Current efforts in this area include the 50,000-participant CardioMetabochip+ consortium and the 100,000 participant Exome+ consortium that are coordinated by us at Cardiovascular Epidemiology Unit (CEU).

Human genetics to inform therapeutics: By relating informative genetic variants to disease outcomes and phenotypes, inference can be made about the likely efficacy and safety profile of current and potential therapeutic agents. For example, we have highlighted the relationship of IL6R variants to risk of heart disease, raising the possibility of monoclonal antibodies being repurposed from inflammatory conditions to cardiovascular pathways. I work closely with large pharmaceutical companies to help discover and evaluate pathways of potential therapeutic interest.

EPIC-CVD: I am the Scientific Coordinator of the EPIC-Heart/EPIC-CVD study, which is a pan-European study of incident coronary disease and stroke including participants from 23 Centres across 10 European countries. This project has a wealth of genetic, biochemical and risk factor data, which are predominantly utilised for the study of gene-environment interaction, cardiovascular risk prediction, and genetic discovery.