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Endothelin-1 Gene Polymorphism and Its Level Predict the Risk of Venous Thromboembolism in Male Indian Population

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Objectives: Genes related to endothelial function are responsible for the regulation of vascular functions. Aim: The aim of this study is to investigate whether endothelial gene-associated polymorphism and their plasma… Click to show full abstract

Objectives: Genes related to endothelial function are responsible for the regulation of vascular functions. Aim: The aim of this study is to investigate whether endothelial gene-associated polymorphism and their plasma levels can be used to predict the risk for venous thromboembolism (VTE). Methods: We studied 133 patients with VTE and 164 healthy controls. Endothelin (EDN) G8002A, EDN T1370G, EDN 3A/4A, eNOSG894T, angiotensin-converting enzyme I/D, vascular endothelial growth factor C936T, and endothelial cell protein C receptor A6936G polymorphism was genotyped by restriction fragment length polymorphism. Plasma levels of endothelin 1 (EDN1), endothelial nitric oxide synthase, and angiotensin-converting enzyme were measured by enzyme-linked immunoassay kit. Results: The genotype and allele frequency between control and patients with VTE were significantly altered only for EDN T1370G polymorphism. The plasma EDN1 concentration was relatively higher in patients with VTE (P = .0017) compared to healthy controls and showed an association with the EDN1 gene polymorphism in male Indian population. Logistic regression model analysis for EDN T1370G indicated a significant association between EDN G allele and occurrence of VTE. Conclusion: The EDN1 gene polymorphism may play a significant role in predicting individual’s susceptibility toward VTE and its clinical progression.

Keywords: risk venous; gene polymorphism; venous thromboembolism; predict risk; gene; polymorphism

Journal Title: Clinical and Applied Thrombosis/Hemostasis
Year Published: 2017

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