Title:Role of Polymorphisms in Factor V (FV Leiden), Prothrombin, Plasminogen Activator Inhibitor Type-1 (PAI-1), Methylenetetrahydrofolate Reductase (MTHFR) and Cystathionine β-Synthase (CBS) Genes as Risk Factors for Thrombophilias
Volume: 12
Issue: 10
Author(s): A. L. Miranda-Vilela
Affiliation:
Keywords:
Coagulation factors, thrombosis, thrombophilias, gene polymorphisms, hypercoagulability, fibrinolysis.
Abstract: Thrombophilias are defined as a predisposition to thrombosis due to hematological changes which induce blood
hypercoagulability; they can be inherited or acquired. They are individually characterized by a large phenotypic
variability, even when they occur within the same family. Hereditary thrombophilias are, in most cases, due to changes
related to physiological coagulation inhibitors or mutations in the genes of coagulation factors. High levels of plasma
homocysteine may also be responsible for vaso-occlusive episodes and may have acquired (nutritional deficiencies of
folate and vitamins B6 and B12) and/or genetic causes (mutations in the genes responsible for expression of enzymes
involved in the intracellular metabolism of homocysteine). Considering that: (1) thromboses are events of multigenic and
multifactorial etiopathology; (2) the presence of mutations in several genes significantly increases the risk of their
occurrence; (3) the vascular territory (venous and/or arterial) affected involves different pathophysiological mechanisms
and treatments, knowledge of genetic variants that may contribute to the risk and variability of the phenotypic
manifestations of these diseases is extremely important. This understanding may provide support for a more
individualized and therefore more effective treatment for thrombophilia carriers. Thus, this mini-review aims to address a
comprehensive summary of thrombophilias and thrombosis, and discuss the role of polymorphisms in Factor V (FV
Leiden), Prothrombin, Plasminogen activator inhibitor type-1 (PAI-1), Methylenetetrahydrofolate reductase (MTHFR)
and Cystathionine β-synthase (CBS) genes as risk factors for thrombophilias.
