Sag Sebnem Ozemri, Gorukmez Ozlem, Ture Mehmet, Gorukmez Orhan, Topak Ali, Sahinturk Serdar, Ocakoglu Gokhan, Gulten Tuna, Ali Ridvan, Yakut Tahsin
Department of Medical Genetics, Division of Hematology, Faculty of Medicine, Uludag University, Bursa, Turkey E-mail :
Asian Pac J Cancer Prev. 2015;16(2):443-9. doi: 10.7314/apjcp.2015.16.2.443.
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).
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.
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).
Consequently this study supported that CC genotype of MMP9 gene -1562 C/T polymorphism may be related with PV even if with borderline significance.
骨髓增殖性疾病（MPD）是起源于多能造血干细胞水平的克隆性血液系统恶性肿瘤。基质金属蛋白酶（MMP）是蛋白水解酶，在恶性肿瘤进展的各个阶段都发挥作用。MMP基因中的遗传变异可能会影响这些酶的生物学功能，并改变它们在致癌作用和肿瘤进展中的作用。据我们所知，这是首次分别研究MMP2基因-735 C/T和MMP9基因-1562 C/T多态性与原发性血小板增多症（ET）和真性红细胞增多症（PV）风险之间的关联。
病例对照研究纳入了102例JAK2V617F突变阳性的ET和PV患者以及111例对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和电泳法确定多态性。
在MMP2基因-735 C/T和MMP9基因-1562 C/T多态性的基因型分布以及C/T等位基因频率方面，患者（ET+PV）组与对照组之间未检测到统计学上的显著差异（p>0.050）。在MMP9基因-1562 C/T多态性的基因型分布方面，PV组与对照组之间观察到统计学上的临界显著性（p=0.050，OR=2.26，95%CI=0.99-5.16）。
因此，本研究支持MMP9基因-1562 C/T多态性的CC基因型可能与PV相关，尽管具有临界显著性。
