Balkan Journal of Medical Genetics

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.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact