Gene regulation of platelet function

Normal function of blood platelets is a complex multistep process that is crucial for maintenance of hemostasis and wound healing. Abnormality of platelet function may cause bleeding or thrombosis and may result in death. Platelet function is regulated by many genes, miRNAs, mRNAs, and proteins at different phases of megakaryocyte maturation and thrombopoiesis. Information on genes that regulate platelet function is obtained from studies of blood disorders using a candidate gene approach, a functional approach, or by using genome-wide association studies. Recent advances in DNA sequencing technologies and in meta-analysis of genome-wide association studies data and epigenomic, transcriptomic, and functional information have allowed identification of novel genes and noncoding genomic DNA regions that play an important role in platelet formation and function that affect thrombotic risk. This chapter is focused on genes that are known to regulate main platelet functions and on novel approaches to identify and characterize platelet-related genes.