Impact of genetic polymorphisms on platelet function and response to anti platelet drugs

Cardiovascular genomic consists in the identification of polymorphic genes responsible for the susceptibility to cardiovascular disease including coronary artery disease (CAD). Genes involved in platelet activation and aggregation play a key role in the predisposition to CAD. A considerable inter-variability of platelet response to agonists and to drugs exists and in particular the hyper-reactivity phenotype seems to be heritable. Besides glycoproteins and receptors expressed on platelets surface whose mutations significantly impact on platelet function, moreover researchers in the last decades have paid great attention to the genes involved in the response to anti-platelet drugs, considering their pivotal role in the treatment and outcomes of CAD patients especially those undergoing PCI. With the outbreak of advanced techniques developed to analyse human genetic footprints, researchers nowadays have shifted from genetic linkage analysis and a candidate gene approach toward genome-wide association (GWAS) studies and the analysis of miRNA-mRNA expression profiles.