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Genetic markers of thrombosis in patients with chronic myeloproliferative diseases


Dambrauskiene Ruta1, Gerbutavičius R1, Ugenskienė R2,Šimoliūnienė R3, Juozaitytė E1

1Oncology and Haematology Clinic of the Institute of Oncology, of the Lithuanian University of Health Sciences (LSMU), Kaunas

2Institute of Oncology, Faculty of Medicine of the Lithuanian University of Health Sciences (LSMU), Kaunas

3Department of Physics, Mathematics and Biophysics, Lithuanian University of Health Sciences (LSMU), Kaunas

Aim: To evaluate the effects of platelet glycoprotein’s, von Willebrand, FVII, β-fibrinogen single nucleotide polymorphisms, factor V Leiden, prothrombin G20210A mutation - and the risk of thrombosis in patients with BCR-ABL negative myeloproliferative neoplasia (MPN) at the Lithuanian University of Health Sciences.

Methods: This study included 108 patients with BCR-ABL negative MPN’s. Genomic DNA was isolated from peripheral blood leukocytes.Genotyping was done using PCR and PCR-RFLP analysis.

Results:Of 108 subjects, 74 (68.5%) were found to have the platelet receptor GPIa/IIa c.807C>T polymorphism that was more frequently found in the group MPN patients with arterial thrombosis compared to the patients who were thrombosis-free (26.5% vs. 11.5%, p=0.049). Platelet recep­tor GPIbα VNTR polymorphism’s DD and CD geno­types were more frequent in the thrombosis group of MPN patients, compared to the patients without thrombosis, (15.5% and 8.2%, p=0.2). Platelet receptor GPIbα Kozak c.-5T>C, GPIbα c.5792 C>T Ko, GPIIb/IIIa PIA1/2 and GPVIc.13254T> Cgenotypes frequencies were similar between the groups. Out of 108 subjects, vWF c.4751A>G SNP was determined in one (0.9%) patient. β-fibrinogen c.-148C>T CT genotype was observed more frequent in patients with thrombosis than those without thrombosis (59.3% and 36.7%, p=0.03).FVIIc.SNP’s the P0/P10 genotype was observed significant more frequent in patients with thrombosis than those without thrombosis (22.0% and 8.2%, p=0.04). Patients who were diagnosed with thrombosis more often had both FVII c.-323 P0/10 and β-fibrinogen c.-148C>TCT genotypes together than those without thrombotic complications (16.9% and 4.1%, p=0.03). Of 108 subjects, four (3.7%) patients were found to have factor V Leiden (FVL) and prothrombin G20210A mutations that had a similar distribution between the groups.

Conclusion: TT genotype of GP Ia/IIac.807C>T, CT genotype of β-fibrinogen c.-148C>T and c.323P10 variant of FVII SNP are associated with risk of thrombosis in patients with MPNs.




In 2002 graduated from Kaunas Medical University, from 2006 attended hematology residency. Since 2006 works as a hematologist and transfuziologist at the Oncology and Hematology Clinic of Lithuanian University of  Health Science (LUHS). From 2012 is a PhD student at the Clinic of Oncology and Hematology, LUHS. Topic of research: " Thrombosis biological markers for patients with chronic myeloproliferative diseases". Since 018 is a lecturer at the Lithuanian University of  Health Science. Areas of scientific and practical interest: essential thrombocytemia, true polycythaemia, primary myelofibrosis, autologous stem cell transplantation. From Over the past five years: 1 study book, 2 methodological recommendations, 3 scientific articles in the main list of WMD, 5 articles reviewed, 5 review papers. Email: ruta[pnkts]dambrauskieneatgmail[pnkts]com