Factor V Leiden mutation is not a predisposing factor for acute coronary syndromes

Himabindu, G.; Rajasekhar, D.; Latheef, K.; Sarma, Potukuchi Venkata Gurunadha Krishna; Vanajakshamma, V.; Chaudhury, Abhijit; Bitla, Aparna R.

doi:10.1016/j.ihj.2012.07.006

Cited by 10 publications

(5 citation statements)

References 16 publications

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“…Whereas, its relevance in southern part is insignificant. In concurrence with the findings reported by Himabindu et al 21 in the present study we have not find FVL mutation in our study cohort.…”

Section: Discussionsupporting

confidence: 94%

Novel single nucleotide mutations in exon-10 of human coagulationFactor V gene in patients with pulmonary thromboembolism

Kasala

Rajasekhar

Vanajakshamma

2020

J Cardiovasc Thorac Res

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Introduction: Acute pulmonary thromboembolism (PTE) presents with wide spectrum and has variable prognosis. Factor V Leiden (FVL) is the most common inherited thrombophilia, with a prevalence of 3%-7% in the general US population, approximately 5% in Whites, 2.2% in Hispanics and 1.2% in Blacks. PTE most commonly originates from venous thrombosis. The occurrence of venous thromboembolism is a culmination of environmental and genetic risk factors. The current study was sought to identify the mutations in exon-10 of FV gene in patients with PTE.<br /> Methods: Sixty cases diagnosed with PTE and 50 healthy controls were enrolled in the present study. Mutation studies in exon-10 of Factor V gene included PCR-DNA sequencing method.<br /> Results: Of 60 patients, we found two novel transition type point mutations: c.1538 G>A and c.1601 G>A in exon-10 of Factor V which is responsible for the cleavage site for aPC. These point mutations resulted in single amino acid change in protein sequence at p.Arg513Lys and p.Arg534Gln respectively. These mutations prevent efficient inactivation of Factor V and Factor V remains active which facilitates over production of thrombin leading to generation of excess fibrin and excess coagulation which results in deep vein thrombosis and PTE.<br /> Conclusion: We report two novel point mutations (c.1538 G>A and c.1601 G>A) in exon-10 of Factor V gene in Indian patients with PTE.

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Section: Discussionsupporting

confidence: 94%

Novel single nucleotide mutations in exon-10 of human coagulationFactor V gene in patients with pulmonary thromboembolism

Kasala

Rajasekhar

Vanajakshamma

2020

J Cardiovasc Thorac Res

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“…3,16,37,38 In contrast, other findings do not support an association between the presence of this genotypic variant and the incidence of CAD. 39 –42 Furthermore, our multivariate logistic regression revealed that the association of FVL (GA + AA) variants is independent of other confounding variables. Further, the study found that the distribution of the FV HR2 gene polymorphism was not significantly different between the patient and control groups and this result is similar to other studies on CAD.…”

Section: Discussionmentioning

confidence: 71%

Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease

Amara

Mrad

Sayeh

et al. 2017

Clin Appl Thromb Hemost

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Coronary artery disease (CAD) is one of the chief causes of death in the world. Several hypotheses have been promoted as for the origin of the disease, among which are genetic predispositions and/or environmental factors. The aim of this study was to determine the effect of factor V (FV) gene polymorphisms (Leiden, G1691A [FVL] and HR2 A4070G) and to analyze their association with traditional risk factors in assessing the risk of CAD. Our study population included 200 Tunisian patients with symptomatic CAD and a control group of 300 participants matched for age and sex. All participants were genotyped for the FVL and HR2 polymorphisms. Multivariate logistic regression was applied to analyze independent factors associated with the risk of CAD. Our analysis showed that the FVL A allele frequency ( P < 10, odds ratio [OR] = 2.81, 95% confidence interval [CI] = 1.6-4.9) and GA genotype ( P < 10, OR = 4.03, 95% CI = 2.1-7.6) are significantly more prevalent among patients with CAD compared to those controls and may be predisposing to CAD. We further found that the FVL mutation is an independent risk factor whose effect is not modified by other factors (smoking, diabetes, hypertension, dyslipidemia, and a family history of CAD) in increasing the risk of the disease. However, analysis of FV HR2 variation does not show any statistically significant association with CAD. The FVL polymorphism may be an independent risk factor for CAD. However, further investigations on these polymorphisms and their possible synergisms with traditional risk factors for CAD could help to ascertain better predictability for CAD susceptibility.

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“…Other authors failed to find an association between FVL and CAD [ 9 , 10 , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] , [32] , [33] , [34] ] and others reported an association between rs1799963 and a moderate increase in CAD risk [ 21 , 35 ]. The lack of consistency among studies may reflect differences in the study population characteristics, regarding the prevalence of cardiovascular risk factors which may act synergistically with FVL, as well as potential gene-gene interactions.…”

Section: Discussionmentioning

confidence: 99%

Factor V Leiden but not the factor II 20210G>A mutation is a risk factor for premature coronary artery disease: a case-control study in Iran

Agosti

Mancini

Sadeghian

et al. 2023

Research and Practice in Thrombosis and Haemostasis

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Factor V Leiden mutation is not a predisposing factor for acute coronary syndromes

Cited by 10 publications

References 16 publications

Novel single nucleotide mutations in exon-10 of human coagulationFactor V gene in patients with pulmonary thromboembolism

Novel single nucleotide mutations in exon-10 of human coagulationFactor V gene in patients with pulmonary thromboembolism

Association of FV G1691A Polymorphism but not A4070G With Coronary Artery Disease

Factor V Leiden but not the factor II 20210G>A mutation is a risk factor for premature coronary artery disease: a case-control study in Iran

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