MMP2 Gene-735 C/T and MMP9 gene -1562 C/T Polymorphisms in JAK2V617F Positive Myeloproliferative Disorders

Abstract

<b>Background:</b> Myeloproliferative disorders (MPDs) are clonal hematologic malignancies originating at thelevel of the pluripotent hematopoietic stem cell. Matrix metalloproteases (MMPs) are proteolytic enzymes thatcontribute to all stages of malignancy progression. Genetic variants in the MMP genes may influence the biologicalfunction of these enzymes and change their role in carcinogenesis and progression. To our knowledge, this isthe first investigation of associations between the -735 C/T and -1562 C/T polymorphisms in the MMP2 andMMP9 genes, respectively, and the risk of essential thrombocytosis (ET), and polycythemia vera (PV). Materialsand <br/><b>Methods</b>: The case-control study included JAK2V617F mutation positive 102 ET and PV patients and 111controls. Polymorphisms were determined by using polymerase chain reaction-restriction fragment lengthpolymorphism (PCR-RFLP) and electrophoresis. <br/><b>Results</b>: No statistically significant differences were detectedbetween patient (ET+PV) and control groups regarding genotype distribution for MMP2 gene-735 C/T andMMP9 gene -1562 C/T polymorphisms and C/T allele frequency (p>0.050). Statistically borderline significancewas observed between PV and control groups regarding genotype distribution for the MMP9 gene -1562 C/Tpolymorphism (p=0.050, OR=2.26, 95%Cl=0.99-5.16). <br/><b>Conclusions</b>: Consequently this study supported that CCgenotype of MMP9 gene -1562 C/T polymorphism may be related with PV even if with borderline significance.