Prevalence of the Factor V Leiden Mutation Arg534Gln in Western Region of Saudi Arabia: Functional Alteration and Association Study With Different Populations

Athar, Mohammad; Abduljaleel, Zainularifeen; Ghita, Ibrahim; Albagenny, Amani A; Halawani, Saeed H.; Alkazmi, Mohammad M; Elbjeirami, Wafa M.; Alquthami, Khalid; Alkhuzae, Mohammad M; Ragab, Fadel M; Al-Allaf, Faisal A.

doi:10.1177/1076029620978532

Cited by 4 publications

(1 citation statement)

References 28 publications

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“…Factor V Leiden is an inherited condition that causes resistance to the anticoagulant effect of APC, which in turn increases the risk of venous thrombosis [35]. Previous research has demonstrated that FVL SNP variant (rs6025) is highly associated with the risk of VTE by using Genome Wide Association Studies (GWAS) [36]. Nevertheless, no FVL mutation was identified in all subjects in this study.…”

Section: Discussionmentioning

confidence: 61%

Clinical impact of the PAI-1 4G/5G polymorphism in Chinese patients with venous thromboembolism

et al. 2022

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Background Venous thromboembolism (VTE) is a life-threatening cardiovascular syndrome that characterized by the imbalance of hemostasis and thrombosis and the formation of thrombi in the blood vessels. The aim of this study was to elucidate the clinical impact of the PAI-1 4G/5G polymorphism in Chinese patients with VTE. Methods A total of 169 subjects (89 VTE, 10 hyperbilirubinemia, 10 hyperlipidemia and 60 healthy controls) were recruited at Peking Union Medical College Hospital. The accuracy of the TaqMan-MGB RT-PCR method for detecting F5 G1691A (FVL) and PAI-1 4G/5G polymorphisms was evaluated by using sequencing method as the gold standard. Besides, the association of the PAI-1 4G/5G polymorphism with susceptibility, treatment efficacy and recurrence status of VTE in Chinese population were explored. Eventually, the plasma PAI-1 antigen levels and PAI-1 4G/5G polymorphisms were determined on additional 64 subjects (32 VTE and 32 healthy controls) simultaneously. Results The TaqMan-MGB RT-PCR method was proven to be highly accurate in determining the FVL and PAI-1 4G/5G polymorphisms without interference from bilirubin and lipids in the samples. No obvious correlation of the PAI-1 4G/5G polymorphism with VTE was observed in our study by using five genetic models (allele, genotype, dominant, recessive and additive). Additionally, we also observed that individuals with the 4G/5G genotype had lower neutrophil counts and neutrophil-to-lymphocyte ratio (NLR) than the 5G/5G genotype. Furthermore, we found that the patients with the 5G/5G genotype were more likely to achieve complete recanalization compared to the 4G/4G genotype. In addition, individuals carrying the 5G/5G genotype were more likely to develop a recurrence-free status as compared to individuals with the 4G/4G or 4G/5G genotypes. PAI-1 antigen levels in the VTE group were significantly higher than those in the HC group. However, there was no significant difference in the antigen levels of PAI-1 among subjects carrying various genotypes in the VTE group or HC group. Conclusion The PAI-1 4G/5G polymorphism has potential value in assessing the prognosis of Chinese patients with VTE. Our study has laid the foundation for the application of PAI-1 4G/5G polymorphism in the personalized management and monitoring of patients with VTE.

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Section: Discussionmentioning

confidence: 61%

Clinical impact of the PAI-1 4G/5G polymorphism in Chinese patients with venous thromboembolism

et al. 2022

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Budd Chiari Syndrome with Portal Vein Thrombosis Managed Successfully with Direct Intrahepatic Portosystemic Shunt: A Case Report and Review of the Literature

Malakar

Mathur

Aggarwal

et al. 2023

Journal of Clinical and Experimental Hepatology

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Diagnosis and treatment of venous thromboembolism during pregnancy relate to genetic polymorphism

Yang,

Wang,

Wang

et al. 2024

Vascular

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Objectives Previous research had shown that age, a positive family history, comorbidities, major surgical operations, gestation, and use of several medications could increase the incidence of venous thromboembolism (VTE). With the development of medical and clinical individualized treatment, many people exposed to above risk factors did not develop VTE, suggested that genetic factors are also involved in the development of VTE. In this review, we aim to summarize VTE diagnosis and treatment in pregnancy women related to gene polymorphism. Methods A comprehensive electronic search using PubMed, MEDLINE, EMBASE and Web of Science was conducted to find relevant journal articles with key search terms including: “pregnancy OR pregnant,” “venous thromboembolism OR VTE,” “deep vein thrombosis OR DVT,” “pulmonary embolism OR PE,” and “genetic OR gene.” Prominent publications from establishment of database till present were analysed to achieve a deeper understanding of VTE during pregnancy relate to genetic polymorphism, and the information was then collated to form this review. Results The literature review revealed that inherited thrombophilia significantly associated with the development of VTE, especially the factor V Leiden (FVL) and prothrombin gene mutation (PGM). Furthermore, the role of methylenetetrahydrofolate reductase (MTHFR) gene mutation in the development of pregnancy-related VTE remains controversial, further study is required. In the present study, Marburg I polymorphism (G511 E), c.1538 G>A and c.1601 G>A in Factor V (FV), JAK2V617 F mutation were reported as an independent risk factor for VTE, there is no sufficient evidence to confirm the gene mutation is related to VTE during pregnancy, these factors appearing as another promising potential diagnostic marker of VTE during pregnancy. Besides, the dosages of heparin in the treatment of VTE during pregnancy need be adjusted according to gene polymorphism of these population, particularly FVL or PGM carriers, and this area is not studied deeply, it is worth further study. Conclusion Inherited thrombophilia significantly associated with the development of VTE, especially the FVL and PGM, however the relation between MTHFR gene mutation and pregnancy-related VTE remains controversial, further study is needed. In addition, the dosages of heparin in the treatment of VTE during pregnancy suggested to adjusted based on gene polymorphism in FVL and PGM, and establish better prediction models is a direction of future research.

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Prevalence of the Factor V Leiden Mutation Arg534Gln in Western Region of Saudi Arabia: Functional Alteration and Association Study With Different Populations

Cited by 4 publications

References 28 publications

Clinical impact of the PAI-1 4G/5G polymorphism in Chinese patients with venous thromboembolism

Clinical impact of the PAI-1 4G/5G polymorphism in Chinese patients with venous thromboembolism

Budd Chiari Syndrome with Portal Vein Thrombosis Managed Successfully with Direct Intrahepatic Portosystemic Shunt: A Case Report and Review of the Literature

Diagnosis and treatment of venous thromboembolism during pregnancy relate to genetic polymorphism

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