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

Sag, Sebnem Ozemri; Gorukmez, Ozlem; Ture, Mehmet; Gorukmez, Orhan; Topak, Ali; Sahinturk, Serdar; Ocakoglu, Gokhan; Gulten, Tuna; Ali, Ridvan; Yakut, Tahsin

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자료유형: 학술저널

저자정보: Sag, Sebnem Ozemri (Department of Medical Genetics, Division of Hematology, Faculty of Medicine, Uludag University) Gorukmez, Ozlem (Department of Medical Genetics, Division of Hematology, Faculty of Medicine, Uludag University) Ture, Mehmet (Department of Medical Genetics, Division of Hematology, Faculty of Medicine, Uludag University) Gorukmez, Orhan (Department of Medical Genetics, Sevket Yilmaz Education and Research Hospital) Topak, Ali (Department of Medical Genetics, Division of Hematology, Faculty of Medicine, Uludag University) Sahinturk, Serdar (Department of Medical Genetics, Division of Hematology, Faculty of Medicine, Uludag University) Ocakoglu, Gokhan (Department of Biostatistics, Division of Hematology, Faculty of Medicine, Uludag University) Gulten, Tuna (Department of Medical Genetics, Division of Hematology, Faculty of Medicine, Uludag University) Ali, Ridvan (Department of Internal Medicine, Division of Hematology, Faculty of Medicine, Uludag University) Yakut, Tahsin (Department of Medical Genetics, Division of Hematology, Faculty of Medicine, Uludag University)

저널정보: 아시아태평양암예방학회 Asian Pacific journal of cancer prevention : APJCP Asian Pacific journal of cancer prevention : APJCP 제16권 제2호

발행연도: 2015.1

수록면: 443 - 449 (7page)

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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 metalloproteases #polymorphism #myeloproliferative disorders

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