Principal Investigator: Dr Benjamin Cairns
Institution: University of OxfordTags: 11537, Aortic stenosis, genetics, GWAS, heart disease
1a: Aortic stenosis is a narrowing of the aortic valve in the heart that affects 2-4% of older people. Aortic valve replacement is the only available option for relief of persistent symptoms, and no medicines are known to slow the progression of the disease. Discovery of genes linked to aortic stenosis could help to identify new medicines for the prevention and treatment of this disease. The aims of this study are to investigate: (i) which health and lifestyle risk factors are associated with aortic stenosis; (ii) which genetic variants increase risk of the disease; and (iii) how they do so.
1b: The objective of the proposed research is to understand the causes of aortic stenosis, which may help point the way to new medicines which can prevent or delay the progression of this disease. It therefore meets UK Biobank’s stated purpose: to “support a diverse range of research intended to improve the prevention, diagnosis and treatment of illness and the promotion of health throughout society.”
1c: This research will be conducted over several phases. Phase 1 will involve exploratory analyses and data processing. In Phase 2, we will compare individuals with and without aortic stenosis to discover genes linked to the disease. In Phase 3, we will investigate whether people with aortic stenosis differ in levels of biological markers (e.g. cholesterol), and whether such differences are related to the genes identified in Phase 2. In Phases 4 and 5, we will investigate other health and lifestyle risk factors, and risks of serious events, like heart attack, in people who have been diagnosed with aortic stenosis.
1d: The full cohort is requested for this study, both for analyses of risk factors, and to facilitate selection of participants for genetic studies. Genetic data may be required for up to the full cohort (excluding those who have not been genotyped).