Balkan Journal of Medical Genetics

THE 3’ END PROTHROMBIN GENE VARIANTS IN SERBIAN PATIENTS WITH IDIOPATHIC THROMBOPHILIA
Aradjanski M1, Djordjevic V1, Pruner I1,*, Tomic B1, Gvozdenov M1, Kovac M2,3, Radojkovic D1
*Corresponding Author: Dr. Iva Pruner, Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444A, PO Box 23, 11010 Belgrade, Serbia. Tel: +381-11-397-6658. Fax: +381-11-397-5808. E-mail: iva.pruner@ gmail.com
page: 43

INTRODUCTION

Thrombophilia refers to a group of inherited or acquired coagulation disorders, leading to venous and/or arterial thrombosis. The most frequent clinical manifestations of venous thrombosis are deep vein thrombosis (DVT), pulmonary embolism (PE) and in case of obstruction of placental circulation, fetal loss (FL). Arterial thrombosis can manifest as myocardial infarction (MI), ischaemic stroke or arterial embolism [1]. Thrombophilia is a multifactorial disorder that arises from the interaction of acquired and genetic risk factors [2]. The most common acquired risk factors include surgery, immobilization, fractures, puerperium, paralysis, prolonged bed rest and use of oral contraceptives [3] The most important genetic risk factors contributing to thrombophilia are deficiencies of natural inhibitors of clotting factors (antithrombin, protein C, protein S), Factor V Leiden (FVL) mutation and prothrombin (FII) G20210A mutation. Deficiencies of natural inhibitors occur sparsely, but represent significant risk factor [4-9]. The FVL mutation is present 3.0-7.0% in Caucasians and 15.0-50.0% in patients with thrombosis, while the incidence of FII G20210A is 1.0-2.0% in Caucasian populations and 18.0-20.0% in patients with thrombosis [8]. The FVL mutation yields an amino acid substitution within the cleavage site of its inhibitor-activated protein C that results in impaired inhibition of FV and increased thrombin generation leading to hypercoagubility [10-12]. The FII G20210A gene variant is located in the 3’ untranslated region (3’UTR) of the FII gene and it has been associated with elevated plasma FII levels. This is a gain-of-function mutation, causing increased cleavage site recognition and 3’ end mRNA processing, which leads to an increased FII synthesis [13- 16]. Apart from the FII G20210A, several variants have been detected in the 3’ end of the FII gene, such as: A19911G, C20211T, T20219A, A20218G and C20209T [17-25]. The 3’ end of the FII gene is a dynamic region because of its non canonical architecture, therefore, it could be a potential region for finding new variants which might contribute to thrombophilia [13-15]. Despite the fact that several genetic risk factors have been associated with thrombophilia, there are still a certain number of patients suffering from idiopathic thrombophilia, defined as unequivocal clinical picture of thrombosis with unknown risk factors. Additionally, there are no data regarding the frequency of FII 3’ end gene variants in patients with idiopathic thrombophilia in Serbia. The aim of this study was to screen 3’ end of FII gene in population of patients with idiopathic thrombophilia originating from the geographic area of Serbia.

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