rs11858159 - PWRN1

Magnitude 2.2 · 1 study on file

Reported associations

• Human Genome-Wide Association and Mouse Knockout Approaches Identify Platelet Supervillin as an Inhibitor of Thrombus Formation under Shear Stress - Unknown journal (n.d.) · Unknown authors · PubMed 22550155

  ABSTRACT: Background High shear force critically regulates platelet adhesion and thrombus formation during ischemic vascular events. To identify genetic factors that influence platelet thrombus formation under high shear stress, we performed a genome-wide association study (GWAS) and confirmatory experiments in human and animal platelets. Methods and Results Closure times in the shear-dependent Platelet Function Analyzer (PFA)-100® were measured on healthy, non-diabetic European Americans (n=125) and African Americans (n=116). A GWAS significant association (p<5X10−8) was identified with 2 SNPs within the SVIL gene (chr 10p11.23) in African-Americans but not European Americans. Microarray analyses of human platelet RNA demonstrated the presence of SVIL isoform 1 (supervillin) but not mu

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