Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium

Đorđević, Veljko; Rakićević, Ljiljana; Spasić, Miloš; Miljić, Predrag; Miković, Danijela; Kovač, Mirjana; Radojković, Dragica

doi:10.2298/vsp0503201d

Cited by 17 publications

(12 citation statements)

References 8 publications

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“…The frequency of the homozygous MTHFR 677TT genotype in our patients with VTE was 19%, which is concordant with other studies performed in the South East Europe: 20% in Serbia, among women with DVT during pregnancy or puerperium, 17.8% in Greece, and 16.4% in Macedonia (25,31,32). A similar frequency of the homozygous genotype in VTE was found in Turkey (23.8%), Spain (23.7%), in Israel (22.8%) and France (21.8%) (10,(33)(34)(35), concordant with the frequency peak in Southern regions.…”

Section: Discussionsupporting

confidence: 92%

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

Popp¹,

Fodor²

2013

Balkan Med J

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IntroductionVenous thromboembolism (VTE) is a multifactorial disease, usually the result of the interaction between a genetic background predisposing to hypercoagulability and acquired risk factors. Although considered idiopathic in 25-50% of cases, investigations may detect a cause in over 80% of the patients with VTE (1). Previous studies have shown that an underlying thrombophilia could be found in about half of patients with a first episode of idiopathic VTE (1, 2). Among the "traditional" thrombophilia factors (such as protein C, protein S or antithrombin III deficiency, Factor V Leiden or Prothrombin G20210A mutations), methylenetetrahydrofolate reductase (MTHFR) polymorphisms associated with hyperhomocysteinemia have recently raised interest. The MTHFR gene encodes the enzyme MTHFR, which regulates the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the substrate for remethylation of homocysteine to methionine. The MTHFR gene is located on the short (p) arm of chromosome 1 at position 36.3. There are two common polymorphisms of the MTHFR gene: the MTHFR 677 CT polymorphism resulting in the substitution of alanine to valine at codon 222 (AlaVal) and the MTHFR 1298 AC polymorphism, resulting in a glutamine to alanine substitution (GluAla). The MTHFR C677T polymorphism, especially in the homozygous state, leads to decreased enzyme activity and hyperhomocysteinemia, whereas the MTHFR A1298C polymorphism presents a less well-defined effect, with a lesser decrease of the enzyme function.The prevalence of the T allele varies among races and ethnic groups: it is more common in Caucasians and Asians (30%) compared to African Americans (11%) (3, 4). In Europe, the lowest frequency is found in Finland (25.1%) and the Netherlands (27.4%) and the highest in Italy (45%; 47.3% in Sicily), France (34%-36%), Hungary (33.7%) and Spain (33%) (5-7). The incidence of the MTHFR C677T polymorphism in the general population is about 45% and 15% for heterozygous and homozygous genotypes, respectively. The prevalence of homozygotes for the MTHFR 677TT polymorphism in Europe varies between 5 and 15%; the heterozygous MTHFR C677T genotype presents the highest prevalence in Italy (44%) and the lowest in Norway (28%) (3,4,8,9).The role of MTHFR polymorphisms in VTE is controversial: some authors have shown an association between the MTHFR C677T polymorphism and VTE (10-14), whereas others have proven the contrary (15)(16)(17)

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Section: Discussionsupporting

confidence: 92%

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

Popp¹,

Fodor²

2013

Balkan Med J

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“…DNA analyses for FV Leiden, FII G20210A and MTHFR C677T mutations were conducted by PCR as previously described [17] . The serum anticardiolipin IgG and IgM antibody titer were determined by ELI-SA assay using Bindazyme Human Anti IgG and IgM (Binding Site, Birmingham, UK).…”

Section: Laboratory Testingmentioning

confidence: 99%

Thrombophilia in Women with Pregnancy-Associated Complications: Fetal Loss and Pregnancy-Related Venous Thromboembolism

Kovač¹,

Mitić

Miković³

et al. 2010

Gynecol Obstet Invest

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Backgound/Aims: Existing data regarding the prevalence of thrombophilia in women with pregnancy complications are conflicting. Methods: To investigate the relationship between pregnancy-associated complications and the presence of thrombophilia, we studied the records of 453 women with pregnancy-associated complications. In 55 women, intrauterine fetal death (fetus mortus in utero, FMU) after 20 weeks of gestation was recorded, in 231 two or more consecutive recurrent fetal losses (RFL) were recorded, while 167 had a venous thromboembolism (VTE) during one of their pregnancies. The control group consisted of 128 healthy women, with no previous history of thrombotic events or miscarriages. Results: In the FMU group we found 54.5% of women had thrombophilia, in the RFL group 38%, and in the VTE group 52.7%. The most frequent thrombophilia in the VTE group was the FV Leiden (OR 17.9, 95% CI 4.2–75.9). The most frequent thrombophilia in the FMU group was the FII G20210A (OR 7.09, 95% CI 1.8–27.9). Statistical difference between RFL and the control group was observed only for FV Leiden (OR 6.8, 95% CI 1.6–29.7). Conclusion: Thrombophilia was found to be considerably more common in women with pregnancy-associated complications in comparison with the women with normal pregnancies, most frequently in patients with VTE or FMU.

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“…Other known SNPs associated with thrombophilia and adverse outcomes during pregnancy are prothrombin G20210A and MTHFR C677T [15–17]. …”

Section: Introductionmentioning

confidence: 99%

Acquired Activated Protein C Resistance, Thrombophilia and Adverse Pregnancy Outcomes: A Study Performed in an Irish Cohort of Pregnant Women

Sedano-Balbás

Lyons

Cleary

et al. 2011

Journal of Pregnancy

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The combination of thrombophilia and pregnancy increases the risk of thrombosis and the potential for adverse outcomes during pregnancy. The most significant common inherited risk factor for thrombophilia is activated protein C resistance (APCR), a poor anticoagulant response of APC in haemostasis, which is mainly caused by an inherited single-nucleotide polymorphism (SNP), factor V G1691A (FV Leiden) (FVL), referred as inherited APCR. Changes in the levels of coagulation factors: FV, FVIII, and FIX, and anticoagulant factors: protein S (PS) and protein C (PC) can alter APC function causing acquired APCR. Prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T are prothrombotic SNPs which in association with APCR can also increase the risk of thrombosis amongst Caucasians. In this study, a correlation between an acquired APCR phenotype and increased levels of factors V, VIII, and IX was demonstrated. Thrombophilic mutations amongst our acquired APCR pregnant women cohort are relatively common but do not appear to exert a severe undue adverse effect on pregnancy.

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Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium

Cited by 17 publications

References 8 publications

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

The Importance of Homozygous Polymorphisms of Methylenetetrahydrofolate Reductase Gene in Romanian Patients with Idiopathic Venous Thromboembolism

Thrombophilia in Women with Pregnancy-Associated Complications: Fetal Loss and Pregnancy-Related Venous Thromboembolism

Acquired Activated Protein C Resistance, Thrombophilia and Adverse Pregnancy Outcomes: A Study Performed in an Irish Cohort of Pregnant Women

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