Platelet genomics: the role of platelet size and number in health and disease

Abstract

Taken together, there is ample evidence of the association of cardiovascular disease, cerebrovascular, and inflammatory disease with single nucleotide variants (SNV) due to their impact on platelet size, number, and function. With the use of electronic medical record (EMR) or other phenotypic-linked bioinformatics sources, the more important “functional” variants are emerging and provide valuable information on their specific role in promoting early onset of disease or poor response to therapeutic measures. This review will focus upon the recognized common polymorphisms or gene variants with small, but functional effects, as it is becoming clear that these contribute to hyper- or hypo-responsive platelet phenotypes. The impact of these gene variants is distinguishable among normal individuals, and they are suspected contributors to increased risk of adverse outcomes in patients with underlying disease. There are thousands of gene variants and environmental factors that may mitigate risk or amplify the potential for disease within each of us. When combined with the environment and epigenetic influences, it is clear that whole-genome sequencing and bioinformatics alone will not be enough to truly predict “risk” or probability, but awareness of their potential influence may be a starting point in selective screening and generating prevention strategies to promote a healthy lifestyle or fine-tune therapeutic choices in the future.

Keywords

• platelet genomics
• single nucleotide variants
• disease associations
• phenotype and genotype
• platelet characteristics
• mean platelet volume