Blood platelet surface receptor genetic variation and risk of thrombotic episodes

Clin Chim Acta. 2019 Sep:496:84-92. doi: 10.1016/j.cca.2019.06.020. Epub 2019 Jun 22.

Abstract

Haemostasis is a set of processes whose main task is to prevent blood loss by creating barriers in damaged vessels. Because of the large number of platelet surface receptors and their many agonists, platelets can be activated in normal and pathologic states leading to thromboembolic complications. Although age, blood pressure, LDL and HDL, diabetes, lack of physical activity, obesity and stress are well established risk factors, recent work has shown that platelet receptor polymorphisms also impact platelet function. The most common polymorphisms include 14A/T (PAR-1), 139C/T, 744T/C, 52G/T, i-ins801A (P2Y12), 1622A/G, -5T/C (GPIbα) 1565C/T (GPIIb/IIIa) and 807C/T (GPIa/IIa). This review examines the influence of these polymorphisms on cardiovascular disease including myocardial infarction, deep venous thromboembolism and acute coronary syndromes. Elucidation of these genetic variations will facilitate our understanding of the complex molecular mechanisms involved with physiologic and pathophysiologic platelet activation and clot formation.

Keywords: Acute coronary syndrome; Cardiovascular disease; Platelet surface receptors; Polymorphism.

Publication types

  • Review

MeSH terms

  • Blood Platelets / metabolism*
  • Genetic Predisposition to Disease / genetics*
  • Genome-Wide Association Study
  • Humans
  • Polymorphism, Genetic*
  • Receptors, Cell Surface / genetics*
  • Thrombosis / genetics*

Substances

  • Receptors, Cell Surface