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

MATERIALS AND METHODS

Patients. This retrospective study included 108 patients. The diagnosis of ET, PV, and PMF was established between 2000 and 2014 at the Department of Hematology of the Institute of Oncology, the Lithuanian University of Health Sciences, Kaunas, Lithuania. Patients who were diagnosed before 2008 were reviewed according to the WHO diagnostic criteria. From a total of 108 patients, 60 (55.6%) patients had ET, 41 (38.0%) patients had PV, and seven (6.5%) were PMF patients. Detailed medical information was collected including the date of diagnosis, the patient’s age, sex, body mass index (BMI), cardiovascular risk factors (smoking, diabetes mellitus, arterial hypertension, and ischemic heart disease), splenomegaly and findings of hematological analyses. We gathered the data on white blood cell (WBC) counts, monocyte, basophile, and platelet counts, medium platelet volume, hemoglobin (Hb), erythrocyte count, hematocrit or packed cell volume (PCV), mean corpuscular volume (MCV), mean corpuscular Hb (MCH) at the time of the diagnosis, as well as JAK-2 p.V617F that was performed from 2009. For JAK2 p.V617F negative patients, CALR mutation status was performed in 2015. History of previous thrombosis was collected as well. Arterial or venous thrombosis, such as ischemic stroke, myocardial infarction, transient ischemic attack, unstable angina, deep vein thrombosis (DVT) of the legs, thrombosis of abdominal veins, and thrombosis of the pulmonary artery, were defined as vascular events. All comparisons were performed between the thrombosis and the thrombosis-free groups for all ET, PV and PMF patients. This study was conducted with the permission of the regional biomedical research ethics committee and in accordance with good clinical and laboratory practices and the principles of the Declaration of Helsinki. A signed consent form was obtained from all participants. Genotyping. Venous blood samples were drawn in vacutainers containing EDTA as anticoagulant. Genomic DNA was isolated from peripheral blood leukocytes, using the commercially available DNA extraction kit, according to the manufacturer’s recommendations (Thermo Fisher Scientific Baltics, Vilnius, Lithuania). Primer sequences for genotyping for the detection of the c.807C>T polymorphism of GP Ia/IIa, c.-5T>C polymorphism of GP Ibα Kozak, GP Ibα polymorphism VNTR, GP Ibα c.5792C>T (HPA-2), PIA1/2 polymorphism in GP IIb/IIIa, the von Willebrand factor (vWF) c.24/1282A>G, the FVII c.-323P0 /10 polymorphism, β-fibrinogen c.-148C>T polymorphism, c.13254T>C polymorphism of GP VI in Table 1. Statistical Analyses. The Statistical Package for the Social Sciences (IBM SPSS Statistics) version 22 was used for the association analyses. Categorical variables were described by the frequency of their values. Quantitative variables were described by mean and standard deviation (SD) or median and the sample width (minimum-maximum). The χ2 test was used for categorical variables. Student’s t-test or Mann-Whitney U test was used for the analysis of quantitative variables. The logistic regression analysis distinguished thrombotic risk factors significantly affecting the possibility of thrombosis in the study group. The differences were considered to be statistically significant if the calculated p value was less than the chosen significance level a = 0.05 (p value <0.05).

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