Study of Polymorphisms in pear1 Gene Link to Platelet Activation and Signaling Pathway Variations

Platelet Function

PEAR1 gene, PEAR 1 gene

In this study PEAR1 polymorphisms effects will be analyze in blood platelets to determine how PEAR1 regulates platelet activation.

Several large-scale studies have confirmed the long held notion that platelet responses to different agonists are highly variable, within well defined populations of healthy donors. Single nucleotide polymorphisms in genes encoding platelet proteins can explain the wide range of responses to standard platelet agonists. Yet, numerous SNPs point towards proteins with previously unknown function in platelets, wich modulate the complex network of signaling events that regulate platelet function and further augment variability. PEAR1 is mainly expressed in platelets and endothelial cells. A few studies have linked SNPs in PEAR1 with decreased or increased platelet responses to various agonists. However, hitherto, no direct functional studies have been carried out to determine whether and how PEAR1 modulate intracellular signaling pathways relevant for platelet function.

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