FREQUENCY AND ASSOCIATION OF 1691 (G>A) FVL, 20210 (G>A) PT AND 677 (C>T) MTHFR WITH DEEP VEIN THROMBOSIS IN THE POPULATION OF BOSNIA AND HERZEGOVINA
Jusić-Karić A, Terzić R, Jerkić Z, Avdić A, Pođanin M
*Corresponding Author: Amela Jusić-Karić, Ph.D., Faculty of Science and Mathematics, University of Tuzla, Univerzitetska 4, 75 000 Tuzla, Bosnia and Herzegovina. Tel: +387-61-289-217. Fax: +387-35-320-861. E-mail: amela.jusic @untz.ba
page: 43

INTRODUCTION

Deep vein thrombosis (DVT) is the most common clinical manifestation of venous thromboembolism with multi factorial pathogenesis. Venous thromboembolism (VTE) occurs as a result of interaction of series of different risk factors including acquired and hereditary conditions. Generally, a tendency toward venous thrombosis can arise from hyperactive anticoagulant pathways, hypoactive anticoagulant mechanisms or hypoactive fibrinolysis [1]. Venous thromboembolism is highly heritable and multiple coinherited genetics risk factors increase the incidence risk [2]. The most common identified mutations interfering with VTE are: 1691 (G>A) factor V Leiden (FVL), 20210 (G>A) prothrombin (PT), deficiency of protein C, protein S and antithrombin III. Blood coagulation factor V is coded by a gene located on the long arm of chromosome 1 (1q23) and consists of 25 exons and 24 introns [3]. Transition in exon 10 of gene F5 causes a substitution (R506Q) known as factor V Leiden that has been recognized as the most prevalent genetic risk factor for VTE. Heterozygotes and homozygotes of the 1691 mutation are associated with a 7- and 80-fold increased risk of venous thrombosis, respectively [4]. It has been estimated that the prevalence of 1691 mutation in the patients with DVT varies between 20.0 and 30.0% [5]. Estimated frequencies of 1691 mutation among Caucasians range from 2.0 to 9.5%, moderate prevalence is observed in Hispanic Americans and Indians (1.0-5.0%), whereas it is rare in Asians and Africans (<1.0%) [6,7]. A G to A transition at position 20210 within the 3’ untranslated region (3’UTR) of the prothrombin gene has been identified as a risk factor for thrombosis [8]. This substitution in the PT gene results in an increased gene expression that could lead into increasing activity of prothrombin in plasma. Geographic difference in the frequency of the 20210 mutation exists in healthy individuals, with the highest frequencies observed in Europe and the Middle East [9], whereas its prevalence among Asians and Africans is <1.0% [4]. According to the literature, the relative risk of thrombosis is twice times higher in patients with the 20210 mutation, three times higher in patients with the 1691 mutation and six times higher in patients who have of both mutations. The C to T transition at position 677 in exon 4 of the methylene tetrahydrofolate reductase (MTHFR) gene is recognized as a mutation that interferes with cysteine metabolism and leads to increased levels of plasma homo-cysteine in homozygotes carrying the 677 mutation. The 677 mutation is common in the general population and has been recognized as the risk factor for cardiovascular diseases [10]. The prevalence of 677 ranges 30.0 to 50.0% (heterozygotes) and 9.0 to 12.0% (homozygotes) in the general population. The exact impact of the 677 mutation on the occurrence of venous thrombosis has been unclear so far, but it is obvious that the presence of hyperhomocysteinemia increases the risk for thrombosis [11]. Although 1691, 20210 and 677 mutations have been recognized as the most common risk factor for VTE, there are only a few reports of prevalence of these mutations in the healthy Bosnian population [12,13]. Our study was conducted in order to investigate the frequency of these mutations and their association with DVT in the Bosnian population.



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