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Approved Research

Genome-wide and genome-first association studies of multi-system phenotypes in the UK Biobank

Principal Investigator: Dr Gabriella Captur
Approved Research ID: 46696
Approval date: February 2nd 2022

Lay summary

Heart problems account for 30% of global deaths. In addition, they cause a lot of physical and psychological suffering. Most of our knowledge around heart problems revolves around traditional risk factors such as having a high blood pressure or high levels of "bad" cholesterol. Defects in the DNA code account for a large proportion of heart problems but this is an area we do not understand very well. For example, we do not understand the same identical DNA defect when present in a person, causes life-threatening heart failure in some, but little or no heart problems in others. We also struggle to understand how these DNA defects affect other organs in the body.

Genetics could provide an answer and inspire new ways of treating or ideally preventing heart problems in those at risk.

In order to answer those questions, we plan to use information from persons participating in the UK Biobank to look at certain parts of the DNA, and how defects here relate to the structure and function of the heart and other organs.

By describing the effects of these DNA defects on the heart and other organs, we hope to improve our understanding of heart disease and pave the way to better and more effective treatments.