GENETIC POLYMORPHISMS OF HEMOSTATIC FACTORS AND THROMBOTIC RISK IN NON BCR-ABL MYELOPROLIFERATIVE NEOPLASMS: A PILOT STUDY
Dambrauskienė R1,*, Gerbutavičius R1, Ugenskienė R2, Jankauskaitė R2, Savukaitytė A2, Šimoliūnienė R3, Rudžianskienė M1, Gerbutavičienė R4, Juozaitytė E1
*Corresponding Author: Rūta Dambrauskienė, Department of Oncology and Hematology, Institute of Oncology, Lithuanian University of Health Sciences, Eivenių str. 2, LT-50009 Kaunas, Lithuania. Tel.: +370-3732-6303. Fax: +370-3732-6413. E-mail: ruta.dambrauskiene@gmail.com
page: 35

INTRODUCTION

The group of Philadelphia-negative (non BCR-ABL) myeloproliferative neoplasms (MPNs), polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), are known for their different phenotypes but similar complications. The most important of these are vascular events. The incidence of thrombotic complications varies between disease types. They occur in 7.215.0% patients with PMF, in 19.0-32.0% patients with ET, and in 30.0-41.0% patients with PV [1-6]. The recent series from Enblom et al. [7], showed that 66.0% of these occurred prior to diagnosis. Janus kinase 2 (JAK2) (p.V617F) and the recently discovered Calreticulin (CALR) mutation are important in the genesis of thrombosis, as the former increases, and the latter decreases the risk of thrombosis [8-11]. Blood cells, interaction between them, and the activation of coagulation factors also play a role in the pathogenesis of thrombosis in non BCR-ABL MPNs. This also includes platelets, as they are important in clot formation and thrombosis. Platelet membrane glycoproteins (GPs) are essential in platelet adhesion and aggregation [12,13]. The main role in the above-mentioned processes is played by GP Ib/IX-V that binds to the von Wilebrand factor (vWF) after endothelial cells are damaged [14]. After this process, platelets become activated and promote conformational changes of GP IIb/IIIa that further facilitates the binding of fibrinogen and vWF to the subendothelial layer [15]. Glycoproteins Ia/IIa and GP VI interact directly with collagen [12]. Platelet-specific polymorphisms in the GP have shown an association with an increased risk of thrombosis in patients with non BCR-ABL MPNs. The PIA1/2 allele of GP IIb/IIIa, and its relation to arterial thrombosis in patients with PV have been described in previous studies [16]. The tissue factor and coagulation factor VIIa (FVII) complex is another initiator of the coagulation cascade, which contacts with platelets, resulting in the generation of thrombin on platelet surfaces [17]. The influence of FVII single nucleotide polymorphisms (SNPs) on arterial thrombosis in ET patients has recently been described [18]. The main purpose of our study was to evaluate the effects of different SNPs: platelet GP (c.807C>T of GP Ia/IIa, c.5T>C of GP Ibα Kozak, GP Ibα variable numbers of tandem repeats (VNTR), GP Ibα c.5792C>T, GP IIb/IIIa PIA 1/2 allele, c.13254T>C of GP VI), vWF c.24/1282A>G, FVII c.-323P0/10, and β-fibrinogen c.-148C>T on the risk of thrombosis in patients with PV, ET, and PMF at the Institute of Oncology of the Lithuanian University of Health Sciences, Kaunas, Lithuania.



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