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

Abstract

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

Matrix Metalloproteinase-2 Single Nucleotide Polymorphism in Egyptian Non-Hodgkin Lymphoma Patients: Correlation with Clinicopathological Characteristics and Outcome

“…The MMP2-735C/T polymorphism is located in the promoter region of the MMP2 gene, and exhibits a substantial influence on transcriptional activity. MMP2-735C/T destroys the Sp1-binding element, with T allele characterized by decreased promoter activity [11]. MMP2 is the keystone part controlling the tumor invasion, growth and metastasis [12].…”

“…Numerous researches reported that MMP-2 has poor prognostic effects in cancers especially in stomach [13], breast [14], lung [15], colorectal [16] and even ovarian cancers [17]. MMP-2 has an essential role in development of some hematologic malignancies [11] like myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) where abnormal expression of MMP2 and even MMP9 were found [18]. Serum MMP9 levels may be useful in predicting prognosis and clinical outcomes of CLL patients in early periods [19].…”

Somatic JAK-2 V617F Mutational Analysis in Polycythemia Rubra Vera: a Tertiary Care Center Experience

“…Myeloproliferative neoplasms (MPN) have been previously called myeloproliferative disorders are chronic, clonal hematopoietic stem cell group of disorders characterized by enhanced proliferation of one or more myeloid lineage cells (Sag et al, 2015;Yang et al, 2015). Polycythaemia rubra vera (PV) is a indolent MPN characterized by an absolute increase in the number of red blood cells, usually accompanied by leukocytosis, thrombocytosis and splenomegaly (Ma et al, 2008;Zhang et al, 2014).…”

Primary Idiopathic Myelofibrosis: Clinico-Epidemiological Profile and Risk Stratification in Pakistani Patients

“…Myeloproliferative neoplasms (MPN) are a group of diseases which are characterized by excessive production of one or more myeloid lineage cells arising from genetic mutations in multipotential hematopoietic stem cells in bone marrow (Sag et al, 2015;Yang et al, 2015). Idiopathic Primary myelofibrosis (PMF) is a heterogenous Philadelphia chromosome-negative MPN exemplified by cytopenias, progressive marrow fibrosis; extramedullary hematopoiesis associated with excessive production of inflammatory cytokines and shortened survival.…”