Association of the 894G>T polymorphism in the endothelial nitric oxide synthase gene with risk of venous thromboembolism in Chinese population |
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Authors: | Li Yan-Yan Zhai Zhen-Guo Yang Yuan-Hua Pang Bao-Sen Wang He-Yao Zhang Wei Zhao Lan Wang Jun Wang Chen |
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Affiliation: | a Beijing Key Laboratory of Respiratory and Pulmonary Circulation, Beijing Institute of Respiratory Medicine, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, 100020, Chinab Department of Clinical Pharmacology, Beijing Chao-Yang Hospital, Capital Medical University, Beijing 100020, Chinac Centre for Pharmacology and Therapeutics, Experimental Medicine, Hammersmith Hospital, Imperial College London, London W12 0NN, UKd Department of Physiology, Capital Medical University, Beijing 100069, China |
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Abstract: | IntroductionEndothelium derived nitric oxide (NO) is a key mediator of vascular homeostasis. Endothelial nitric oxide synthase (eNOS) gene, by affecting the expression and functional activity of the eNOS enzyme, thereby reducing NO availability, may be implicated in venous thromboembolism (VTE). We investigated the eNOS G894T polymorphism in VTE patients in the Chinese population.Materials and methodsA case-control study was conducted in a general hospital. Blood samples, collected from 462 consecutive patients with VTE and 462 healthy controls, were used for DNA extraction. Single nucleotide polymorphisms (SNP) of eNOS (894 G/T) were determined by allele specific-polymerase chain reaction (ARMS-PCR) analysis.ResultsThe eNOS 894 G/T polymorphism alleles distribution was in agreement with the principle of Hardy-Weinberg equilibrium. The prevalence of homozygote, heterozygote and pathological homozygote for the eNOS G894T polymorphism in VTE patients was 79.7%, 18.1% and 2.2%, respectively (controls: 86.6%,12.3% and 1.1%). T allele distribution in the VTE (11.3%) and especially the male VTE patients (12.5%) was more common than in healthy controls (7.3%). The frequency of GT + TT genotype was significantly higher among the age ≤ 55 years patients in VTE group than in controls (20.1% vs. 12.2%, P = 0.033).ConclusionOur result demonstrates that the 894 G/T polymorphism variant of eNOS is a risk factor for VTE in Chinese population. |
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Keywords: | Endothelial NO synthase Venous thrombosis Pulmonary embolism Single nucleotide polymorphism |
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