PEAR1 (epi)genetic profiling in population studies to unravel its potential role in platelet and endothelial cell function variability

Platelets are small circulating cells that play a crucial role in arresting bleeding after vascular trauma. One of the proteins that contributes to this process is the Platelet Endothelial Aggregation Receptor-1 (PEAR1) which stabilizes platelet aggregation. PEAR1 is also present in cells that are precursors of platelets and in cells, present in the blood stream. In the last years PEAR1 has been found to be a potential player in cardiovascular diseases via its control on platelet and endothelial cell reactivity. Based on recent insight of gene regulation, PEAR1 production in a given cell seems to depend on a complex mechanism that involves the content (DNA sequence), physical organization (chromatin conformation) and interacting proteins (transcription factors) of its region in the genome. Some of these features are fixed (genetic component), while others undergo dynamic changes over time often dependent on “environmental” factors (epigenetic component). By applying novel and state of the art methodologies in the field, this work will determine the interplay between the genetic and epigenetic components in determining platelet and endothelial cell population variability, through differential PEAR1 expression, with possible clinical implications.