Genetics of platelet traits in ischaemic stroke: Focus on mean platelet volume and platelet count.

Stroke is one of the leading cause of disability and death worldwide. Evidence suggests that variants of genes involved in different pathways modulate the susceptibility to stroke. Various treatments given to these patients target the relevant pathways to achieve the required therapeutic response. Antiplatelet agents underscore the crucial role of platelets in the pathogenesis of stroke. Higher platelet reactivity in terms of mean platelet volume (MPV) and platelet count (PLT) contributes significantly to the interindividual variation in platelet reaction at the site of vessel wall injury. Some individuals encounter thrombotic events as platelets get occluded at the site of vessel wall injury whereas others heal the injury without occluding the circulation. There has been compelling evidence that MPV and PLT have a strong genetic component. Several high throughput techniques including genome-wide association studies (GWAS), whole exome sequencing (WES), whole genome sequencing (WGS), phenome-wide association studies (PheWAS) and multi-omic analysis have been employed to identify the genetic variants influencing MPV and PLT. In this review, we highlight the recent breakthroughs in understanding the genetic component affecting MPV and PLT. Evaluating the biological function of genetic factors is an important step in understanding the association of platelet count and volume with stroke susceptibility.