Background and Objective: ADAMTS13 (A Disintegrin-like and Metalloproteases with
Thrombospondin type-1 repeats, member-13) plays an important role in vascular hemostasis by
cleaving the von Willebrand Factor (vWF). ADAMTS13 and vWF are involved in the development
of ischemic heart disease. In this review paper, we examine the effects of Single Nucleotide
Polymorphisms (SNPs) and mutations in the vWF and ADAMTS13 genes and their contribution to
the development of thrombosis.
Methods: Relevant English-language literature was searched and retrieved from PubMed search
engine (2001-2017). The following keywords were used: “ADAMTS13”, “vWF”, “Polymorphism”,
Results: SNPs in the ADAMTS13 and vWF genes cause genetic variability and affect the plasma
levels of these genes. Moreover, environmental (such as age, smoking, hypertension) and genetic
factors (like ABO blood groups) play a role in the development of different polymorphisms in
ADAMTS13 and vWF genes.
Conclusion: The increased or decreased activity of these two genes as a result of genetic changes
and the development of thrombosis are a challenging and contradictory matter, and the study of
genetic variability in ADAMTS13 and vWF genes may be helpful in the diagnosis of thrombotic