Prevalence of genetic prothrombotic risk factors: 1691G &gt; AFV, 20210G &gt; APTand 677C &gt; TMTHFRmutations in the Bosnian population

Adler, Grażyna; Garstka, Agnieszka; Valjevac, Amina; Czerska, Ewa; Kiseljaković, Emina; Salkić, Nermin N.

doi:10.3109/03014460.2014.968618

Cited by 8 publications

(9 citation statements)

References 24 publications

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“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Terzić

Jerkić

et al. 2016

Balkan Journal of Medical Genetics

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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).

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Section: Introductionmentioning

confidence: 99%

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

Terzić

Jerkić

et al. 2016

Balkan Journal of Medical Genetics

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“…The 677C>T mutation (rs1801133) of the MTHFR gene leads to a defective methylene tetrahydrofolate reductase (MTHFR) enzyme that has only 50% of the normal activity and is a common cause of elevated levels of homocysteine, previously identified as a risk factor for VTE. The frequency of MTHFR 677T allele in Bosnians is 37.5% and is higher than those reported for the Czechs, Ukrainians, Norwegians, and Swedes (25.0%, 29.1%, 29.0%, and 25.0%, respectively), as well as for Austrians and the Dutch (each 29.3%) [4]. The American College of Obstetricians and Gynecologists recommends against screening for MTHFR variants to determine the presence of thrombophilia in pregnant women [10].…”

Section: Introductionmentioning

confidence: 80%

“…Furthermore, in European Caucasians with VTE, the prevalence of F2 20210G>A is from 3% to 17%, and in Mediterranean populations with VTE this figure is from 3% to 24% [7][8][9]. The F2 20210A allele frequency in Bosnians is 6.0%, and is higher than in Poles and Ukrainians, 2.5% and 1.7%, respectively [4]. The 677C>T mutation (rs1801133) of the MTHFR gene leads to a defective methylene tetrahydrofolate reductase (MTHFR) enzyme that has only 50% of the normal activity and is a common cause of elevated levels of homocysteine, previously identified as a risk factor for VTE.…”

Section: Introductionmentioning

confidence: 91%

“…The prevalence of the genetic risk factors for thrombophilia is higher in Bosnian population compared to several European populations [4]. Therefore, the aim of our study was to investigate the prevalence of F5 G>A (rs6025), F2 G>A (rs1799963) and MTHFR C>T (rs1801133) polymorphisms in Bosnian women with miscarriages and to determine the correlation with the risk of PL.…”

Section: Introductionmentioning

confidence: 96%

“…The 1691G>A mutation increases the risk of venous thrombosis (VT) up to 50-100 fold in adult homozygous [3]. In European populations, the frequency of F5 1691A allele is higher in Bosnians (6.0%) than in the Czechs (2.6%), Ukrainians (1.5%), and Croats (1.4%) [4]. Numerous studies indicated that the F5 1691G>A is responsible for 3-42% of PL [5].…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of 1691G>A F5, 20210G>A F2, and 677C>T MTHFR polymorphisms in Bosnian women with pregnancy loss

Mahmutbegović¹,

Marjanović

Medjedović

et al. 2017

Bosn J of Basic Med Sci

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The relationship between genetic risk factors of thrombophilia and pregnancy loss (PL) is being discussed. The focus has been on F5 1691G>A, F2 20210G>A, and MTHFR 677C>T polymorphisms that may predispose women to microthrombosis during the stages of embryo implantation and placentation. Although, the frequencies of these polymorphisms were reported in different populations, such studies have not yet been performed in Bosnian population. In this study, we determined the prevalence of F5 G>A (rs6025), F2 G>A (rs1799963) and MTHFR C>T (rs1801133) polymorphisms in Bosnian women. A total of 154 women with PL, mean age 33 (±5.4) years, were enrolled in the study. As a control group, 154 mothers [mean age 31.4 (±6.7) years] with at least one live-born child were included. We used real-time polymerase chain reaction (PCR) to determine the frequencies of F5 G>A and F2 G>A genotypes, and PCR-restriction fragment length polymorphism (RFLP) for analyzing MTHFR C>T genotypes. The frequency of heterozygotes for F5 and F2 was significantly higher in women with venous thrombosis (VT) compared to women without VT (p = 0.047 and p = 0.001, respectively). There was no significant difference in the distribution of MTHFR genotypes and alleles between these two groups. In addition, we observed no significant differences in the genotype and allele frequencies between the group with PL and control group, for all investigated polymorphisms. The allele frequencies for 1691A (F5), 20210A (F2), and 677T (MTHFR) reported in this study are consistent with the data obtained for other European countries, however, we were not able to confirm the association between the three polymorphisms and PL in Bosnian women.

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Revisiting the application of the SWAT model in arid and semi-arid regions: a selection from 2009 to 2022

Rocha

Souza

Montenegro

et al. 2023

Theor Appl Climatol

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Prevalence of genetic prothrombotic risk factors: 1691G > AFV, 20210G > APTand 677C > TMTHFRmutations in the Bosnian population

Abstract: Further studies on larger cohorts with an adequate female-to-male ratio are necessary to confirm a high prevalence of hereditary thrombophilia in the Bosnian population.

Cited by 8 publications

References 24 publications

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

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

Prevalence of 1691G>A F5, 20210G>A F2, and 677C>T MTHFR polymorphisms in Bosnian women with pregnancy loss

Revisiting the application of the SWAT model in arid and semi-arid regions: a selection from 2009 to 2022

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