Principal Investigator: Dr Tuuli Lappalainen
New York Genome Center, USATags: 47976, functional mechanism, gene-environment interaction, genetic association, penetrance, regulatory variant
Even though genetic studies have identified tens of thousands of positions in the genome that associate to human diseases and traits, several challenges remain. It is usually not clear how genetic variants affect the molecular processes of the cell in a way that ends up eventually affecting a very complex trait like height or disease state. Furthermore, it is known that not all individuals carrying a disease risk variant develop a disease, and sometimes a particular genetic risk factor may be active for example only in individuals under certain environments or depend on other genetic variants elsewhere in the genome. In this study, we will analyze UK Biobank data of genetic variation and different traits to better understand these mechanisms, by integrating these data with other publicly available resources of molecular variation in cells and tissues. We do not study any specific disease or trait, but rather aim to understand the general mechanisms across diverse traits. We will use existing data according to best practices of human genetic research, and expect this study to take about three years. The value of this research lies in better understanding of how genetic variants affect human traits. While our research is unlikely to provide direct applications to improve public health, it will inform future pursuits to improve disease diagnosis and develop interventions in human disease.