Biomarkers and systems biology

In order to predict the risk of disease, a biomarker needs to be present prior to the development of the disease, rather than being a consequence of the disease. Plasma isolated from blood is easily accessible and therefore an attractive source for measuring potential biomarkers. Despite several previous targeted efforts, no predictive biomarker has been identified for incident VTE. Therefore, a wider focus on the plasma proteome is presumably a more efficient strategy to identify novel biomarkers that are associated with VTE.

Genetic variation underlying molecular phenotypes, such as proteins and transcript expression levels, may be important tools to unravel biological pathways mediating disease processes, ultimately resulting in physiological understanding of diseases. Several studies have systematically identified genetic variations associated with protein levels and isoforms, and revealed novel pathways that could be tested in experimental laboratory studies. However, no study has used this approach to identify pathways in the pathogenesis of VTE. We will combine the genotype data with the MS-based proteomic data to perform protein quantitative trait loci (pQTL) studies to identify molecular pathways involved in the pathogenesis of VTE.