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.

scholarly journals Investigation of the relationship between inherited thrombophilia and novel coronavirus pneumonia

2021 ◽  
Author(s):  
Aslihan Kiraz ◽  
Seda Guzeldag ◽  
Esma Eren ◽  
Musa Goksu ◽  
Arslan Bayram
Keyword(s):  
Factor V Leiden ◽  
Control Group ◽  
Healthy Population ◽  
Factor V ◽  
Nucleotide Polymorphisms ◽  
Healthy Control ◽  
Prothrombin Gene ◽  
Novel Coronavirus ◽  
Relationship Of ◽  
The Relationship

Aim: This study aimed to investigate the relationship between severe novel coronavirus pneumonia (NCP) and hypercoagulable conditions that predispose patients to thrombosis such as the prothrombin gene ( F2) rs1799963 (G20210A), factor V Leiden ( F5) rs6025 (G1691A) and PAI-1 (rs1799768). Patients: NCP-diagnosed 62 previously healthy patients were enrolled for the investigation of the thrombophilia-related polymorphisms. Materials & methods: The frequency of genotypes were compared with healthy control group frequencies from other studies. Results: There were no statistically significant differences between the severe patient group and the healthy population regarding the investigated single nucleotide polymorphisms (SNPs). Conclusion: This study is the first to rule out the relationship of rs1799963, rs6025 and rs1799768 with severe NCP.

scholarly journals Genetic Mutations in Turkish Population With Pulmonary Embolism and Deep Venous Thrombosis

2010 ◽  
Vol 17 (6) ◽  
pp. E87-E94 ◽  
Author(s):  
Elif Kupeli ◽  
Hasibe Verdi ◽  
Abdullah Simsek ◽  
Fatma Belgin Atac ◽  
Fusun Oner Eyuboglu
Keyword(s):  
Allele Frequency ◽  
Methylenetetrahydrofolate Reductase ◽  
Health Hazard ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Turkish Population ◽  
Factor V ◽  
G20210a Mutation ◽  
Significant Difference ◽  
Pai 1

Venous thromboembolism (VTE) is a universal health hazard. Inherited and acquired risk factors increase the risk of VTE. We evaluated the relationship between factor V (G1691A, A1090G, and A1299G), prothrombin (PT G20210A), methylenetetrahydrofolate reductase (MTHFR C677T) mutations, plasminogen activator inhibitor 1 (PAI-1 -675) polymorphism, and VTE in Turkish population. In all, 80 patients with VTE and 104 controls were included. Heterozygous factor V Leiden (FVL) mutation was significantly higher among patients ( P = .04) with allele frequency of 6.3% ( P = .01). Heterozygous PT G20210A mutation was also significantly higher among patients ( P = .001) with allele frequency of 6.9% ( P = .003). MTHFR 677TT genotype was significantly higher in patients ( P = .009) with allele frequency of 23.8% ( P = .005). No significant difference was found in FV A1090G and FV A1299G mutation rate as well as PAI-1 genotypes and their allele frequencies ( P > .05). Thus, frequencies of FV G1691A, PT G20210A, and MTHFR C677T mutations are higher in patients with VTE. FV A1090G, FV A1299G mutations, and PAI-1 gene polymorphisms may not be a risk factor for VTE in Turkish population.

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.

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.

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.

The Vulnerability of the Construction Ergonomics to Covid-19 and Its Probability Impact in Combating the Virus

2021 ◽  
Vol 4 (1) ◽  
pp. 01-17
Author(s):  
Ahmed Fahim Elgendi ◽  
◽  
◽  
◽  
◽  
...  
Keyword(s):  
Construction Industry ◽  
Construction Projects ◽  
World Health ◽  
Personal Hygiene ◽  
Extensive Literature ◽  
Novel Coronavirus ◽  
Health Organization ◽  
Assessment Procedures ◽  
Chronic Health Problems ◽  
The Relationship

Currently, the world encounters the outbreak of an unprecedented epidemic named novel coronavirus COVID -19. World Health Organization (WHO) advises maintaining social distancing, preserving personal hygiene, and staying informed with the latest guidelines. WHO also reports the patients with robust immunity can combat the virus. However, the workers in the construction industry work and live in a crowded and non-hygiene environment. Moreover, they are characterized by illiteracy, a dearth of awareness, and chronic health problems that prove weak immunity. Therefore, this study aims to find the relationship between the virus and the prevailing conditions and the environment of the construction industry, under focus, and study so that the construction industry is not a vulnerability gap that may exacerbate the crisis. An extensive literature exploration for the latest research deals with coronavirus, the construction industry ergonomics, and its relevant diseases. This study makes robust alerts to motivate the governments, organizations, and individuals to collaborate to find solutions to close the gap between the current situation in the construction of ergonomics and the required precaution to avoid the outbreak of the virus. This study makes a crucial and novel contribution by paving the way for providing solutions to save humanity worldwide. The management system should review the conventional risk assessment procedures, and developed criteria must be introduced and become an everyday practice of all construction projects. This will help identify the gaps within the safety procedures associated with the COVID – 19 protection aspects. This article also introduces a framework in this regard.

The APC-independent anticoagulant activity of protein S in plasma is decreased by elevated prothrombin levels due to the prothrombin G20210A mutation

Blood ◽  
2003 ◽  
Vol 102 (5) ◽  
pp. 1686-1692 ◽  
Author(s):  
Rory R. Koenen ◽  
Guido Tans ◽  
René van Oerle ◽  
Karly Hamulyák ◽  
Jan Rosing ◽  
...  
Keyword(s):  
Neutralizing Antibodies ◽  
Protein C ◽  
Anticoagulant Activity ◽  
Factor V Leiden ◽  
Protein S ◽  
Prothrombin G20210a ◽  
Healthy Population ◽  
Factor V ◽  
Thrombotic Risk ◽  
G20210a Mutation

AbstractProtein S exhibits anticoagulant activity independent of activated protein C (APC). An automated factor Xa–based one-stage clotting assay was developed that enables quantification of the APC-independent activity of protein S in plasma from the ratio of clotting times (protein S ratio [pSR]) determined in the absence and presence of neutralizing antibodies against protein S. The pSR was 1.62 ± 0.16 (mean ± SD) in a healthy population (n = 60), independent of plasma levels of factors V, VIII, IX, and X; protein C; and antithrombin, and not affected by the presence of factor V Leiden. The pSR strongly correlates with the plasma level of protein S and is modulated by the plasma prothrombin concentration. In a group of 16 heterozygous protein S–deficient patients, the observed mean pSR (1.31 ± 0.09) was significantly lower than the mean pSR of the healthy population, as was the pSR of plasma from carriers of the prothrombin G20210A mutation (1.47 ± 0.21; n = 46). We propose that the decreased APC-independent anticoagulant activity of protein S in plasma with elevated prothrombin levels may contribute to the thrombotic risk associated with the prothrombin G20210A mutation.

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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