scholarly journals The frequency of genetic factors of thrombophilia in women with recurrent pregnancy losses

2018 ◽  
Vol 23 ◽  
pp. 249-255
Author(s):  
L. B. Chorna ◽  
H. V. Makukh ◽  
D. V. Zastavna ◽  
N. V. Prokopchuk ◽  
N. V. Helner
Keyword(s):  
Genetic Factors ◽  
Molecular Genetic ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
Mthfr Gene ◽  
Control Group ◽  
Factor V ◽  
Recurrent Pregnancy Losses ◽  
Western Ukraine ◽  
Allele Variation

Aim. There is growing evidence that recurrent pregnancy losses (RPL) are associated with the presence of inherited thrombophilias but data are inconsistent. The present study aimed to assess the distribution of inherited risk factors of thrombophilia among women with RPL. Methods. We studied 68 women with RPL and 120 healthy women of control group, inhabitants of Western Ukraine. In all subjects the detection of genetic factors of thrombophilia were determined by polymerase chain reaction and restriction fragment length polymorphism method. Results. The prevalence of heterozygotes for FV 1691G/A among women with RPL and controls were: 12 % versus 4 %, respectively. Women heterozygosity for factor V Leiden was significantly more prevalent in the RPL group than in controls (OR 3.11, 95 % CI 1.02–9.46). Results showed that carriers of PAI-1 4G allele have increased odds on more than 2 times in comparison to the carriers of homozygous 5G5G genotypes. A significant relationship between allele variation 677T of MTHFR gene (OR 1.70, 95 % CI 1.09–2.67) and RPL was observed. Conclusions. Significance of 1691G/A mutation of V blood coagulation factor gene, alleles variations of 677T of MTHFR gene and 4G of PA1-1 gene in the structure of predisposition to RPL in group of west Ukrainian women was established. Keywords: genetic factors, hereditary thrombophilia, molecular genetic testing, RPL.

The Investigation of the Relationship Between the Inherited Thrombophilia and Novel Coronavirus Pneumonia

2020 ◽  
Author(s):  
Aslihan Kiraz ◽  
Seda Guzeldag ◽  
Esma Eren ◽  
Musa Goksu ◽  
Arslan Bayram
Keyword(s):  
Genetic Factors ◽  
Factor V Leiden ◽  
Turkish Population ◽  
World Health ◽  
Control Group ◽  
Healthy Population ◽  
Factor V ◽  
Novel Coronavirus ◽  
The Relationship ◽  
Pai 1

Abstract Purpose: Novel coronavirus pneumonia (NCP) is a disease caused by severe acute respiratory syndrome coronavirus 2 virus. It was reported that there is a relationship between severe NCP and hypercoagulable conditions that predispose patients to thrombosis. Thrombophilia is a multifactor condition that can result from genetic factors, acquired factors, or a combination of both. The prothrombin gene (F2 rs1799963 known as G20210A), Factor V Leiden (F5 rs6025 known as G1691A) and PAI-1 (rs1799768) are important polymorphic biomarkers of thrombophilia that are investigated in severe NCP patients within this study.Methods: NCP-diagnosed 62 previously healthy male patients (mean age 38.83±11.04) without any chronic disease were enrolled in this study for the investigation of the well-known thrombophilia-related abovementioned polymorphisms. The diagnosis of NCP was made according to the World Health Organization interim guidance and confirmed by RNA detection. SNPs were detected by real-time PCR. The frequency of genotypes was compared with healthy control group frequencies from other studies performed in the Turkish population.Results: There were no statistically significant differences between the severe patient group and the healthy population regarding the investigated SNPs.Conclusion: This study is the first to rule out the relationship of rs1799963 (FII), rs6025 (FV) and rs1799768 (PAI-1) with severe NCP. As there is an obvious relation between severe NCP and genetic thrombophilia susceptibility, studies focused on other thrombophilia-related genetic factors and this disease must be performed.

The impact of genetic factors in the development of thrombosis in cancer patients

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e22227-e22227
Author(s):  
M. Özkan ◽  
I. Koçyigit ◽  
M. Dikilitas ◽  
Y. Özkul ◽  
I. Sari ◽  
...  
Keyword(s):  
Genetic Factors ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Control Group ◽  
Study Group ◽  
Factor V ◽  
Mthfr C677t Polymorphism ◽  
Significant Difference ◽  
The Difference ◽  
And Control

e22227 Background: Thromboembolism is frequent in patients with cancer. Although it is known that several acquired factors take place in this process, the role of the genetic factors is controversial. In this study we analysed the most common genetic polymorphisms which have a role in the development of thrombosis. Methods: Study population consists of 292 (158 with thrombosis and 134 without thrombosis) patients treated between 2004 and 2008. Thrombosis was diagnosed by clinically and radiological measures in any time during the course of disease. Factor V Leiden G1691A, Prothrombin G20210A, Methlene Tetra Hydrofolate Reductase (MTHFR) C677T and Plazminogen Activator Inhibitor (PAI-1) 4G/5G were analysed with PCR-RFLP (Polymerase Chain Reaction- Restriction Fragment Length Polymorphism). Results: In the study group 48 and 1 patient had heterozygot and homozygot polymorphism for Factor V Leiden G1691A respectively. In the control group 32 heterozygot and 1 homozygot polymorphism and there was no statistically significant differents between study and control group (p=0,462).For Protrombin G20210A 11 and 4 heterozygot polymorphism were observed in control and study group respectively. While there was 1 homozygot polymorphism in study group there was no in control group and the difference between two groups was not statistically significant (p=0,198). For MTHFR C677T, 48 and 24 heterozygot polymorphism, 15 and 12 homozygot polymorphism were observed in study and control group respectively. The difference between two groups were statistically significant (p=0,04). There was no statistically significant difference between two groups for PAI-1 4G/5G polymorphisms (p=0,362). In subgroup analyses, statistically significant difference was found only in MTHFR C677T polymorphism in patients with GI cancer and with and without thrombosis (p=0,028). Conclusions: The studies investigating the relationship between genetic factors and thrombosis revealed controversial results. However, we found no genetic factor relevant to thrombosis other than MTHFR C677T polymorphism. Further studies investigating genetic and acquired factors in the development of the thrombosis in detail are warranted for documenting clearly the role of genetic polymorphisms. No significant financial relationships to disclose.

Prevalence of 20210 A Allele of the Prothrombin Gene in Venous Thromboembolism Patients

1998 ◽  
Vol 80 (07) ◽  
pp. 49-51 ◽  
Author(s):  
Bernard Mercier ◽  
Emmanuel Oger ◽  
Eric Chenu ◽  
Jean-François Abgrall ◽  
Claude Férec ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Odds Ratio ◽  
Factor V Leiden ◽  
Clinical Suspicion ◽  
Control Group ◽  
Factor V ◽  
Factor V Gene ◽  
Prothrombin Gene ◽  
Allele Variation

SummaryBackground. The 20210 A allele variation in the 3’ -untranslated region of the prothrombin gene was recently identified as a risk factor as regards deep venous thrombosis. Aim. To assess the frequency of the variation in unselected patients with a proven venous thromboembolism (VTE). Methods. The presence of the prothrombin variation was determined in all consecutive patients referred from July 1994 to August 1997 for a clinical suspicion of VTE, and in whom the diagnosis was confirmed. A control group consisted of bone marrow volunteer donors. Results. Of the 366 patients included, 17 (4.6%) were carriers of the 20210 A allele (95% CI, 2.4% to 6.7%). The mutation was present in 1.0% of the 400 controls. Odds ratio for having VTE in the presence of the 20210 A allele was 4.8 (95% CI, 1.5 to 19.8). Forty-six (12.5%) patients had the mutation of the factor V gene and five (1.4%) patients shared both mutations. After excluding the carriers of the factor V mutation, odds ratio for having VTE in the presence of the 20210 A allele was 3.7 (95% CI, 1.1 to 13.6). Mean age at admission as well as mean age of the first VTE episode were both significantly higher in patients free from the two mutations studied, as compared to carriers of the 20210 A allele (p = 0.04 and 0.01, respectively). Conclusion. Our findings in a large series of patients (1) confirm the 20210 A allele prothrombin gene as a risk factor for VTE. (2) suggest that its association with the factor V Leiden is not uncommon.

Interaction Between Hyperhomocysteinemia, Mutated Methylenetetrahydrofolatereductase (MTHFR) and Inherited Thrombophilic Factors in Recurrent Venous Thrombosis

2002 ◽  
Vol 88 (11) ◽  
pp. 723-728 ◽  
Author(s):  
Miranda Keijzer ◽  
Henk Blom ◽  
Gerard Bos ◽  
Huub Willems ◽  
Wim Gerrits ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Odds Ratio ◽  
Factor V Leiden ◽  
Mthfr Gene ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Factor V ◽  
Homocysteine Concentration ◽  
Recurrent Venous Thrombosis

SummaryVenous thrombosis is a multicausal disease involving acquired and genetic factors. In this study we investigated a possible interaction between hyperhomocysteinemia (fasting or postload) and factor V Leiden or prothrombin G20210A on the risk of recurrent venous thrombosis. We also looked at the risk due to mutations in the MTHFR-gene (C677T and A1298C).We performed a case-control study in 171 patients with a history of recurrent venous thrombosis and 461 control subjects from the general population. Hyperhomocysteinemia (fasting or 6 h after an oral methionine load) was defined as a homocysteine concentration above the 90th percentile of the distributions in the control group.The odds ratio (adjusted for age and sex) for recurrent venous thrombosis was 1.8 (95%CI: 1.1 to 3.0) for fasting hyperhomocysteinemia, 5.1 (95%CI: 3.0 to 8.6) for factor V Leiden and 1.8 (95%CI: 0.7 to 4.2) for prothrombin G20210A. We found 14 patients and 3 controls with both hyperhomocysteinemia and factor V Leiden, which yielded an odds ratio of 11.6 (95%CI: 3.2 to 42.5). We found no interaction between hyperhomocysteinemia and prothrombin G20210A. The relative risk for MTHFR 677CT was 1.6 (95%CI: 1.1 to 2.4) and for MTHFR 677TT was 1.4 (95%CI: 0.7 to 2.8). The combined risk for MTHFR 677TT and factor V Leiden was 18.7 (95%CI: 3.3 to 108).We conclude that hyperhomocysteinemia and factor V Leiden are risk factors for recurrent venous thrombosis. The risk of thrombosis appeared high for individuals who had both risk factors.

Coagulation Factor V Leiden Mutation Was Detected in the Patients with Activated Protein C Resistance in Thailand

1998 ◽  
Vol 80 (08) ◽  
pp. 344-345 ◽  
Author(s):  
Pasra Arnutti ◽  
Motofumi Hiyoshi ◽  
Wichai Prayoonwiwat ◽  
Oytip Nathalang ◽  
Chamaiporn Suwanasophon ◽  
...  
Keyword(s):  
Protein C ◽  
Activated Protein C ◽  
Factor V Leiden ◽  
Coagulation Factor ◽  
Factor V ◽  
Activated Protein C Resistance ◽  
Factor V Leiden Mutation ◽  
Coagulation Factor V

Phenotyping and Genotyping of Coagulation Factor V Leiden

1996 ◽  
Vol 75 (02) ◽  
pp. 267-269 ◽  
Author(s):  
H Engel ◽  
L Zwang ◽  
H H D M van Vliet ◽  
J J Michiles ◽  
J Stibbe ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Coagulation Factor ◽  
Diagnostic Value ◽  
Resistance Test ◽  
Amplification Refractory Mutation System ◽  
Factor V ◽  
Chain Reactions ◽  
Apc Resistance ◽  
Specificity And Sensitivity ◽  
Coagulation Factor V

SummaryThe currently used activated Protein C resistance test demonstrated to be of limited diagnostic value for the detection of the mutant Factor V Leiden. Moreover, this assay is not useful for patients under anticoagulant therapy. A modification of the APC resistance test, applying Factor V deficient plasma is described which demonstrates a specificity and sensitivity of 1.0. The superiority of the modified APC resistance test over the existing APC resistance test was verified by genotyping.For that purpose, the Amplification Refractory Mutation System (ARMS) was applied to the detection of the G to A mutation at position 1691 in the gene encoding coagulation Factor V. The mutation at that position could be easily detected by using each of two allele-specific oligonucleotide primers concomitantly with one common primer in two separate polymerase chain reactions, thereby amplifying a fragment of 186 base-pairs of the Factor V gene.

Combined Factor V Leiden (R506Q) and prothrombin G20210A genotyping in young patients presenting with deep venous thrombosis

2006 ◽  
Vol 21 (1) ◽  
pp. 24-27 ◽  
Author(s):  
A Mansilha ◽  
F Araújo ◽  
M Severo ◽  
S M Sampaio ◽  
T Toledo ◽  
...  
Keyword(s):  
Risk Factor ◽  
Young People ◽  
Venous Thrombosis ◽  
Deep Venous Thrombosis ◽  
Young Patients ◽  
Factor V Leiden ◽  
First Episode ◽  
Control Group ◽  
Factor V ◽  
Factor V Leiden Mutation

Objective: To evaluate the association between the Factor V Leiden (FV R506Q) and prothrombin gene (FII G20210A) mutations and deep venous thrombosis (DVT) in young people. Methods: Blood samples were drawn from 199 subjects: 100 healthy controls and 99 unselected patients, with an objectively documented first episode of DVT under 40 years old. DNA analysis was performed using the polymerase chain reaction. Results: The mean age in the patient cohort was 27 years (range 16–40) and 68 (68.7%) were women. Patient prevalences were 20.6% and 10.1% for FV R506Q and FII G20210A, respectively. In the control group, carrier frequencies were 2% and 5%, respectively. We found an increased overall relative risk of DVT with statistical significance for FV R506Q carriers (OR: 12.8; 95% CI: 2.9–56.7; P < 0.001), but not for FII G20210A mutation (OR: 2.1; 95% CI: 0.7–6.5; P = 0.19). Conclusions: Our results suggest a possible increase in DVT risk for the young G20210A allele carriers, which can be more expressed in the presence of a circumstantial risk factor. There is extremely strong evidence that the Factor V Leiden mutation is an important risk factor in the development of a first episode of DVT in young people.

Association of maternal and/or fetal factor V Leiden and G20210A prothrombin mutation with HELLP syndrome and intrauterine growth restriction

2003 ◽  
Vol 105 (3) ◽  
pp. 279-285 ◽  
Author(s):  
Dietmar SCHLEMBACH ◽  
Ernst BEINDER ◽  
Juergen ZINGSEM ◽  
Ute WUNSIEDLER ◽  
Matthias W. BECKMANN ◽  
...  
Keyword(s):  
Blood Flow ◽  
Intrauterine Growth Restriction ◽  
Hellp Syndrome ◽  
Factor V Leiden ◽  
Growth Restriction ◽  
Control Group ◽  
Factor V ◽  
Intrauterine Growth ◽  
Prothrombin Mutation ◽  
Thrombophilic Mutations

This study was conducted to investigate the association of maternal and/or fetal factor V Leiden (FVL) and G20210A prothrombin mutation with HELLP syndrome. FVL and G20210A prothrombin mutation were determined using PCR. Sixty-three pregnant women, 36 of them diagnosed with HELLP syndrome, were included in the study. Overall, 68 children were born as a result of these pregnancies and blood sampling was possible in 28 out of 39 children from HELLP patients and 25 out of 29 children from the control women. The prevalence of a maternal FVL was elevated 2-fold in HELLP patients compared with the control women [six out of 36 (16.7%) compared with two out of 27 (7.4%); P=0.282]. None of the HELLP patients and only one woman in the control group was found to be positive for the G20210A prothrombin mutation (P=0.251). The fetal carrier frequency was four out of 28 compared with three out of 25 for FVL (P=0.811), and two out of 28 compared with one out of 25 for G20210A prothrombin mutation (P=0.629). Intrauterine growth restriction (IUGR) was significantly higher in fetuses found to be positive for a thrombophilic mutation (P=0.022). IUGR occurred in seven out of ten fetuses with a thrombophilic mutation compared with 11 out of 43 in fetuses without a mutation. The prevalence of FVL, but not of the G20210A prothrombin mutation, seems to be elevated in women with HELLP syndrome. A fetal thrombophilic mutation does not contribute significantly to the clinical features of the HELLP syndrome. Our results demonstrate a fetal contribution to IUGR. Fetal thrombophilic mutations may lead to placental microthrombosis, which consecutively could lead to a disturbed fetoplacental blood flow and thus cause growth restriction.

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.

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