The Role of MMP1, MMP2 and MMP9 Gene Polymorphisms in BCR/ABL1- negative Myeloproliferative Neoplasms

Abstract

Background and Objectives BCR/ABL1-negative myeloproliferative neoplasms (MPNs) such as primary myelofibrosis (PMF), essential thrombocythemia (ET), and polycythemia vera (PV) arise from the clonal proliferation of neoplastic stem cells in the bone marrow. Matrix metalloproteinases (MMPs), zinc-dependent endopeptidases, play a role in extracellular matrix and bone marrow remodeling. Moreover, it was suggested that MMPs modulate platelet function and thrombus formation. It is well known that MPN patients often experience thrombosis and other disease complications. However, assessing the thrombotic events risk is difficult because of the complexity of the interactions of multiple factors, e.g. age, history of previous thrombosis, cardiovascular comorbidities, and mutational status, that affect thrombosis. So, there is a need for research that will help to understand whether MMP genetic variants may be a potential early marker for thrombotic events in patients with MPNs. Here, we analyzed the effect of MMP1, MMP2, and MMP9 gene polymorphisms on the risk of thrombotic events and clinical characteristics in patients with PMF, ET, and PV. [...].