| Title: | Genetic Studies of Cardiac Morphology & Structural Abnormalities |
| Lead Institution: | Stanford University |
| Principal investigator: | Dr James Priest |
Application 15860
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About
We aim to better understand the contribution of genetic factors to variation in normal heart structure and to look for genes and genetic variation which may contribute to diseases involving the structures and valves of the heart. These studies aim to better understand the genetics of normal cardiac structures and their malformations. Oftentimes these diseases occur in infancy or early childhood, and though the UK Biobank does not include children, studying these diseases in the enrolled subjects will improve our understanding of these diseases thus improving the prevention, diagnosis and treatment of cardiac structural malformations. We will look at the genetic information collected by the UK Biobank and correlate that information with normal differences in size of cardiac structures (measured by MRI) or with a particular disease involving structures of the heart. We will require access to the full cohort, but for selected aspects of the studies may only use a small subset affected with a particular disease or selected as a matched control subject.3 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 11301 | Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy | Mengyao Yu (+13) | 2023 | Circulation Genomic and Precision Medicine |
| 10286 | High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease | Goncalo Abecasis (+82) | 2022 | Nature Genetics |
| 9886 | Learning epistatic polygenic phenotypes with Boolean interactions | Merle Behr (+11) | 2024 | PLOS ONE |
Enabling scientific discoveries that improve human health