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

Abstract

The 1691 (G>A) factor V Leiden (FVL) and 20210 (G>A) prothrombin (PT) mutations are the two most common genetic risk factors in venous thromboembolism. The 677 (C>T) methylene tetrahydrofolate reductase (MTHFR) mutation is the most frequently mentioned as an independent genetic risk factor for venous thromboembolism. As there are limited published data on the prevalence of the 1691, 20210 and 677 mutations in our population, the aim of this study was to determine the frequencies and association of these deep vein thrombosis mutations in the Bosnian population.This study included 111 thromboembolic patients and 207 healthy subjects with absence of known risk factors for venous thromboembolism. Genotyping of the 1691, 20210 and 677 mutations was done by polymerase chain reaction (PCR), followed by restriction digestion with MnlI, HindIII and HinfI enzymes.Out of the 111 patients, 18.0% were heterozygous and 2.70% were homozygous for the 1691 mutation. Among 207 healthy controls, 3.86%, were heterozygous for the 1691 mutation. This study confirmed the association of the 1691 mutation with deep vein thrombosis in the Bosnian population odds ratio (OR) [95% confidence interval (CI)] = 6.0 (2.62-14.14); p = 0.0001). The 20210 mutation was detected in 2.70% of patients and it was totally absent in the control group. Allele and genotype frequency of 677 did not differ significantly between the cases and controls (χ2 = 1.03; p = 0.309).

Frequency of Thrombophilic Gene Mutations in Patients with Deep Vein Thrombosis and in Women with Recurrent Pregnancy Loss

“…New reports determined the frequency of factor V Leiden mutation in the European population as about 5% and about 20% in patients with venous thrombosis [16]. While the prevalence of heterozygous prothrombin G20210A genotype among Saudi patients with DVT was 3 (5%) in agreement with those who suggested an insignificant association between prothrombin G20210A and DVT [17]. Heterozygous MTHFR C677T genotype among Saudi female patients with DVT was 6 (10%) and did not reach the significance level (P = 0.558), in agreement with a previous report stating that there is no association between MTHFR C677T and DVT [18].…”

Association of prothrombin, FV Leiden and MTHFR gene polymorphisms in the Montenegrin patients with venous thromboembolism

“…Our results similarly correlate with the result of Serbia (11.6% patients VTE) 13 . Other studies from our region report different results in which heterozygotes for FII 20210 were presented in patients with VTE with lower frequency (Croatia 4% and Bosnia and Herzegovina 2.7%) 30,34 .…”

“…The occurrence of the thromboembolic disease is in the line with the simultaneous presence of a gene polymorphisms and environmental risk factors which can partly explain the inconsistent results of similar studies conducted in different geographic regions 10,11,34 . The results of our study show that the presence of polymorphisms FII G20210A and FV G1691A is significantly higher in the VTE group compared to a healthy control group.…”

“…cases and 21000 controls, shows a significant association of the HET for FV G1691A and FII G20210A with VTE 11 and it is in concordance to our study. Literature data have shown that the combined effect of more than one genetic polymorphism for thrombophilia susceptibility can double or triple the risk for VTE 9,33,34 . The combination of the most significant genetic risk factor, FV G1691A and FII G20210A, with HET and RH in the MTHFR gene, has been frequently found in patients with VTE 11,33 .…”

The incidence of FVL and PT G20210A mutations in patients with idiopathic deep venous thrombosis

“…In a comprehensive study, homozygous MTHFR 677TT genotype was found in 10% of patients with DVT and in 11% of healthy subjects, and the heterozygous MTHFR C677T genotype was found to be similar in both patients with DVT and control group as 43% [31]. In healthy Bosnian population, the prevalence of homozygous and heterozygous MTHFR 677 polymorphisms has been reported to vary between 9%-12%, and 30%-50%, respectively [32]. The prevalence of homozygote for MTHFR 677TT genotype and double heterozygote for MTHFR C677T/ MTHFR A1298C genotypes was found 8.8% and 14.4%, respectively in our previous study in healthy Turkish subjects [25]; similar to the rates of this study 7.4% and 16.29%, respectively.…”