| Title: | Common and rare genetic variants associated with cardiometabolic traits and disease |
| Lead Institution: | University of Pennsylvania |
| Principal investigator: | Dr Daniel Rader |
Application 70653
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About
Cardiometabolic diseases such as cardiovascular disease, metabolic liver disease, diabetes mellitus and hypertension have a complex genetic etiology and often co-occur, which makes distinguishing causal from correlated risk factors very difficult. We, therefore, aim to improve cardiometabolic health by utilizing several modern epidemiological concepts. The premise of this proposal is to understand the effects of common and less common genetic variants on cardiometabolic traits and diseases. The objectives of the proposed project are to identify causal risk factors for cardiometabolic traits, diseases, response to therapy, and outcomes and the effect of genetic variants on those. We will investigate the interaction between genetics and environmental factors and evaluate whether disease prediction can be improved by incorporating this information into novel risk models for cardiometabolic diseases. The proposed research will significantly improve knowledge of the biological mechanisms that lead to cardiometabolic disease, refine disease prevention and detect new types of markers for early detection and/or intervention. This information will help healthcare professionals advance treatment and prevention strategies for various cardiometabolic outcomes. We expect the scope of the project we have outlined to take three years.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 9398 | A missense variant in human perilipin 2 (PLIN2 Ser251Pro) reduces hepatic steatosis in mice | Eleonora Scorletti (+24) | 2023 | JHEP Reports |
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