Venous Thromboembolic Disease and the Prothrombin, Methylene Tetrahydrofolate Reductase and Factor V Genes

1999 ◽  
Vol 81 (04) ◽  
pp. 506-510 ◽  
Author(s):  
Martine Alhenc-Gelas ◽  
Emmanuel Arnaud ◽  
Viviane Nicaud ◽  
Marie-Laurence Aubry ◽  
Jean-Noël Fiessinger ◽  
...  
Keyword(s):  
Mthfr Gene ◽  
Control Group ◽  
Factor V ◽  
Single Mutation ◽  
Methylene Tetrahydrofolate Reductase ◽  
Risk Alleles ◽  
G20210a Mutation ◽  
Venous Thromboembolic ◽  
V Genes ◽  
Methylene Tetrahydrofolate

SummaryThe prevalence of the A20210 allele of the prothrombin (PT) gene and the T677 allele of the methylene tetrahydrofolate reductase (MTHFR) gene was determined in 205 patients with venous thromboembolism (VTE) and in 398 healthy subjects of similar age and sex distribution. We also determined the frequency of these two candidate risk alleles in subjects carrying the factor V (FV) Q506 allele, to identify a possible interaction. Forty patients (19.5%) and 14 control subjects (3.5%) were heterozygous for the FV R506Q mutation. Twenty-one patients (10.2%) and 11 controls (2.8%) were heterozygous for the PT A20210 allele (odds ratio (OR) 4.02, 95% confidence interval (CI): 1.90-8.50, p <0.001). This confirmed that the PT A20210 allele was a risk factor for VTE in our population. Among the FV Q506 allele carriers, 9 patients (22.5%) and no control also had the PT gene G20210A mutation. The absence of the combined abnormality in the control group made it impossible to calculate the relevant ORs but the lower bound of the 95% CI was 3.94, suggesting that individuals bearing the two mutations have a higher risk than those with a single mutation. Twenty-six patients (12.7%) and 49 controls (12.3%) were homozygous for the MTHFR T677 allele (OR 1.04, 95% CI: 0.62-1.72, not significant). Four patients and 1 control were also heterozygous for the FV R506Q mutation (OR 9.33, 95% CI: 1.03-84.23). However, the ORs for carriers of the FV R506Q mutation were not significantly influenced by MTHFR gene C677T homozygosity.

Factor V Leiden, C>T MTHFR Polymorphism and Genetic Susceptibility to Preeclampsia

1997 ◽  
Vol 77 (06) ◽  
pp. 1052-1054 ◽  
Author(s):  
Elvira Grandone ◽  
Maurizio Margaglione ◽  
Donatella Colaizzo ◽  
Giuseppe Cappucci ◽  
Dario Paladini ◽  
...  
Keyword(s):  
Genetic Susceptibility ◽  
Factor V Leiden ◽  
Controlled Study ◽  
Control Group ◽  
Gene Variants ◽  
Factor V ◽  
Mthfr Polymorphism ◽  
Methylene Tetrahydrofolate Reductase ◽  
Fv Leiden ◽  
Methylene Tetrahydrofolate

SummaryWe performed a case-controlled study to investigate whether the FV Leiden mutation and the C>T677 polymorphism of the 5,10 methylene tetrahydrofolate reductase (MTHFR) are associated with the occurrence of preeclampsia in 96 otherwise healthy preeclamptic women and 129 parous women as controls. FV Leiden carriers were 10 (10.5%) in cases and 3 (2.3%) in controls (OR: 4.9, 95% Cl: 1.3-18.3). MTHFR TT homozygotes were 28 (29.8%) in cases and 24 (18.6%) in the control group (OR: 1.8,95% Cl 1.0-3.5). No difference in any of the polymorphisms was found between proteinuric (n = 45) and non-proteinur-ic (n = 51) patients. Moreover, MTHFR polymorphism does not affect the association between FV Leiden and preeclampsia. In conclusion, FV Leiden mutation and MTHFR TT genotype are associated with the occurrence of preeclampsia, suggesting that, during pregnancy, women carrying these gene variants are prone to develop such a complication.

scholarly journals Coagulation factors II,V and methylene tetrahydrofolate reductase gene polymorphism in patients with diabetic nephropathy: prevalence, clinical and prognostic implications

2010 ◽  
Vol 13 (1) ◽  
pp. 6-9 ◽  
Author(s):  
Olga Filippovna Sibireva ◽  
Ekaterina Yur'evna Khitrinskaya ◽  
Vadim Vital'evich Kalyuzhin ◽  
Aleksey Eduardovich Sazonov ◽  
Igor Ivanovich Ivanchuk ◽  
...  
Keyword(s):  
Diabetic Nephropathy ◽  
Gene Polymorphism ◽  
Methylenetetrahydrofolate Reductase ◽  
Prognostic Significance ◽  
Coagulation Factor ◽  
Control Group ◽  
Factor V ◽  
Methylene Tetrahydrofolate Reductase ◽  
Reductase Gene ◽  
Methylene Tetrahydrofolate

Aim. To study prevalence, clinical and prognostic significance of prothrombotic genotypes pre-dominant in inborn thrombophilia in patients with diabeticnephropathy (DN). Materials and methods. A total of 90 patients with DN were examined; 54 and 36 cases suffered DM1 and DM2 respectively. Control group comprised100 healthy subjects. PCR was used to iden-tify single nucleotide substitution (C677T) in the methylene tetrahydrofolate reductase gene (MTHFR),point mutation in coagulation factor V gene (FV), and G202210A mutation in factor II gene (FII). Results. The probability of DN in patients with DM1 increases in the presence of Leiden mutation and in DM2 patients in the presence of single nucleotidesubstitu-tion (C677T) in MTHFR gene and G202210A mutation in the 3-untranslated region of FII. Conclusion. The prevalence of the above mutations associated with blood coagulation potential in DN patients is higher than in healthy subjects.Key words: diabetes mellitus, diabetic nephropathy, gene polymorphism, methylenetetrahydrofolate reductase

scholarly journals Methylene tetrahydrofolate reductase gene mutation together with anticardiolipin antibody during pregnancy: a case report

2002 ◽  
Vol 120 (5) ◽  
pp. 152-153
Author(s):  
Egle Couto ◽  
Ricardo Barini ◽  
Marcelo Luís Nomura ◽  
Joyce Maria Annichino-Bizzacchi
Keyword(s):  
Case Report ◽  
Venous Thrombosis ◽  
Gene Mutation ◽  
Oral Anticoagulants ◽  
Anticardiolipin Antibody ◽  
Mthfr Gene ◽  
Methylene Tetrahydrofolate Reductase ◽  
Clinical Complications ◽  
G20210a Mutation ◽  
Methylene Tetrahydrofolate

CONTEXT: High plasmatic homocysteine levels have been associated with arterial and venous thrombosis. The C677T methylene tetrahydrofolate reductase (MTHFR) gene mutation is one of the known causes for high homocysteine levels in plasma. Anticardiolipin antibody (ACA) is also associated with thrombosis and, along with other clinical complications such as recurrent abortion and stillbirth, is part of the antiphospholipid syndrome. DESIGN: Case report. CASE REPORT: A 19-year-old woman with two gestations and one parity (G2P1) had exhibited deep venous thrombosis in her previous puerperal period. Investigation of thrombophilic factors revealed ACA-IgM and heterozygous C677T mutation in the MTHFR gene. Lupus anticoagulant, protein C, protein S and antithrombin III deficiencies, and Leiden factor V and the G20210A mutation in the prothrombin gene, were not detected. The patient received 55,000 IU of subcutaneous heparin daily, from the 15th to the 36th week of pregnancy, when vaginal delivery took place. There were no clinical complications during the puerperal period and she was discharged three days after delivery, while still using oral anticoagulants.

scholarly journals The association of methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, homocysteine, vitamin B12, and folate with coronary artery disease (CAD) in the north of Iran

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Saeideh Amani ◽  
Ebrahim Mirzajani ◽  
Seyed Mehrdad Kassaee ◽  
Minoo Mahmoudi ◽  
Fardin Mirbolouk
Keyword(s):  
Coronary Artery Disease ◽  
Gene Polymorphism ◽  
Vitamin B12 ◽  
Control Group ◽  
Mthfr A1298c ◽  
Methylene Tetrahydrofolate Reductase ◽  
North Of Iran ◽  
A1298c Polymorphism ◽  
Methylene Tetrahydrofolate ◽  
Artery Disease

AbstractBackgroundWe pursued to find out the possible association of Methylene tetrahydrofolate reductase (MTHFR) A1298C gene polymorphism, blood homocysteine, vitamin B12, and folate with Coronary artery disease (CAD) in the study population in Guilan, north of Iran.Material and MethodsNinety patients with CAD and 76 healthy controls were evaluated. MTHFR A1298C polymorphism and its genotype frequency, the plasma level of homocysteine, vitamin B12 and folate were evaluated by using ARMS-PCR, ELISA, and Chemiluminescence methods, respectively.ResultsThe frequency of genotypes, A, AC and CC in CAD were 40, 35.6, 24.4%, respectively which was significantly different (p=0.016) from the control group that were 26.3, 57.9 and 15.8%, respectively. The serum level of vitamin B12 and folate in genotype A1298C were not statistically significant between two groups (p>0.05), however, the plasma homocysteine in patients with CAD was remarkably higher than the control group (p<0.001). Additionally, in CAD patients the plasma level of homocysteine in the AC genotype was significantly higher than the control subjects (p=0.005).ConclusionIt is thus concluded that MTHFR A1298C gene polymorphism is associated with CAD. It seems that the AC genotype of MTHFR A1298C polymorphism might have a protective effect on CAD.

scholarly journals APC-resistance as a possible predictor of recurrent thrombosis in women with Factor V Leiden

2018 ◽  
Vol 67 (6) ◽  
pp. 50-59 ◽  
Author(s):  
Maria G. Nikolayeva ◽  
Andrey P. Momot ◽  
Marina S. Zaynulina ◽  
Ksenia A. Momot ◽  
Natalia N. Yasafova
Keyword(s):  
Thrombotic Event ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Resistance Index ◽  
Reproductive Age ◽  
Control Group ◽  
Factor V ◽  
Recurrent Thrombosis ◽  
Apc Resistance ◽  
Venous Thromboembolic

Hypothesis/aims of study. The current analysis was undertaken to elucidate the role of Factor Va resistance to proteolytic cleavage by activated protein C in FVL(1691)GA female carriers in the development of acute and recurrent thromboses. Study design, materials and methods. A prospective clinical cohort study of 1100 women of reproductive age was conducted, with the course and outcomes of 2,707 pregnancies analyzed. Two cohorts were specified: the main group consisted of 500 patients with FV(1691)GA genotype, and the control group consisted of 600 patients with FVL(1691)GG genotype. Results. FVL(1691)GA genotype was significantly associated with the development of venous thromboembolic complications (VTEC) compared to FVL(1691)GG genotype (OR 9.3; p < 0.0001). Episodes of recurrent thrombosis during and outside of pregnancy were registered only in FVL(1691)GA patients (OR 5.7, p = 0.2). In all cases, at the time of the thrombotic event and during the period before the episode of acute or recurrent thrombosis, an APC resistance normalized ratio (NR) value was ≤ 0.49, with no episodes of VTEC registered with an APC resistance NR value ≥ 0.5. Conclusion. Venous thromboses occur under the condition of expressed APC resistance with underlying FVL(1691)GA carriage. The APC resistance index can serve as an objective biochemical marker to determine the feasibility of thromboprophylaxis within the framework of personalized medicine.

scholarly journals 284 Gene polymorphism of 5, 10-methylene tetrahydrofolate reductase is related to boar semen quality

2019 ◽  
Vol 97 (Supplement_3) ◽  
pp. 117-117
Author(s):  
wen lai ◽  
chao Wang ◽  
Jian Peng
Keyword(s):  
Semen Quality ◽  
Mthfr Gene ◽  
Missense Mutations ◽  
Double Mutation ◽  
Polymorphic Loci ◽  
Synonymous Mutations ◽  
Methylene Tetrahydrofolate Reductase ◽  
Boar Semen ◽  
Methylene Tetrahydrofolate

Abstract 5, 10-methylene tetrahydrofolate reductase (MTHFR) is an important enzyme in folate and homocysteine metabolism, and plays an important role in regulating folate levels, DNA synthesis and methylation in cells. Defects in the MTHFR gene can lead to spermatogenesis disorders and male sterility. Polymorphic loci of MTHFR gene and semen quality of 1,490 boars were examined to explore their relationship. Results showed there were 13 polymorphic loci on MTHFR gene exon in boars with different semen quality, among which loci 1 and 2 were missense mutations. For Duroc boars, although there were synonymous mutations at loci 3–5 and 11, the mutation had no effect on semen quality (P &gt; 0.05). In addition to loci 13, loci 1–12 of the MTHFR gene had mutations, but it had no effect on semen quality in Yorkshire boars (P &gt; 0.05). Interestingly, for Landrace boars, double mutation of MTHFR gene at 1–2, 6–10, and 12 loci (CC → TT) led to decreased sperm motility and increased abnormal sperm rate (P &lt; 0.05). Further analysis showed seminal plasma MDA and hydrogen peroxide levels were increased in Landrace boars with the mutation of MTHFR gene at loci 1–2, 6–10 and 12 (P &lt; 0.05). In conclusion, double mutation of MTHFR gene at 1–2, 6–10, and 12 loci decreased semen quality and increased oxidative stress in sperm, and these mutant loci may be potential biomarkers for predicting the semen quality of Landrace boars.

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