| Title: | Dissecting the genetic and phenotypic architecture of cardiovascular disease |
| Lead Institution: | Icahn School of Medicine at Mount Sinai |
| Principal investigator: | Dr Ron Do |
Application 16218
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About
The major aim of this proposal is to use the genetic data produced by the UK BioBank to investigate key questions related to the genetic and phenotypic architecture of cardiovascular disease. We have a particular interest in studying whether these diseases are comprised of a discrete subset of disease entities. The UK BioBank?s stated purpose is to improve the prevention, diagnosis and treatment of a wide range of illnesses ? including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia. Our proposal aims to examine genetic and phenotypic links both within cardiovascular disease and across different traits and diseases. By examining these links, we hope to translate key findings into clinical utility, ultimately leading to advances in the diagnosis, prediction, and treatment of cardiovascular diseases. We will identify participants of the UK BioBank who have coronary artery disease (CAD) and those without. We will compare the genetics of cases and controls and test if genetic variants are associated with these disease. We will use environmental and lifestyle information to define subsets of these diseases. We will also combine genetic, clinical, environmental and lifestyle information to examine genetic links between CAD and other diseases. Finally, we examine the evolutionary and functional properties of genetic loci for CAD The full cohort will be used for our research studies.5 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 9237 | A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations | Brittany M. Wenger (+10) | 2020 | Genetics in Medicine |
| 10448 | A tissue-level phenome-wide network map of colocalized genes and phenotypes in the UK Biobank | Ghislain Rocheleau (+8) | 2022 | Communications Biology |
| 10834 | Machine learning-based marker for coronary artery disease: derivation and validation in two longitudinal cohorts | Iain S Forrest (+11) | 2022 | The Lancet |
| 9991 | Muesli Intake May Protect Against Coronary Artery Disease Mendelian Randomization on 13 Dietary Traits | Joshua K. Park (+12) | 2024 | JACC Advances |
| 11252 | Phenome-wide Mendelian randomization study of plasma triglyceride levels and 2600 disease traits | Joshua K Park (+12) | 2023 | eLife |
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