A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

ABSTRACT: Platelets are enucleated cell fragments derived from megakaryocytes that play key roles in hemostasis and in the pathogenesis of atherothrombosis and cancer. Platelet traits are highly heritable and identification of genetic variants associated with platelet traits and assessing their pleiotropic effects may help to understand the role of underlying biological pathways. We conducted an electronic medical record (EMR)-based study to identify common variants that influence inter-individual variation in the number of circulating platelets (PLT) and mean platelet volume (MPV), by performing a genome-wide association study (GWAS). We characterized genetic variants associated with MPV and PLT using functional, pathway and disease enrichment analyses; we assessed pleiotropic effects of such varia

SUBMITTER: Shameer K 

PROVIDER: S-EPMC3880605 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature