Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis

摘要

Background and Objective: ADAMTS13 (A Disintegrin-like and Metalloproteases withThrombospondin type-1 repeats, member-13) plays an important role in vascular hemostasis bycleaving the von Willebrand Factor (vWF). ADAMTS13 and vWF are involved in the developmentof ischemic heart disease. In this review paper, we examine the effects of Single NucleotidePolymorphisms (SNPs) and mutations in the vWF and ADAMTS13 genes and their contribution tothe development of thrombosis.Methods: Relevant English-language literature was searched and retrieved from PubMed searchengine (2001-2017). The following keywords were used: “ADAMTS13”, “vWF”, “Polymorphism”,and Thrombosis”.Results: SNPs in the ADAMTS13 and vWF genes cause genetic variability and affect the plasmalevels of these genes. Moreover, environmental (such as age, smoking, hypertension) and geneticfactors (like ABO blood groups) play a role in the development of different polymorphisms inADAMTS13 and vWF genes.Conclusion: The increased or decreased activity of these two genes as a result of genetic changesand the development of thrombosis are a challenging and contradictory matter, and the study ofgenetic variability in ADAMTS13 and vWF genes may be helpful in the diagnosis of thromboticdisorders.