[Effects of G894T mutation in the endothelial nitric oxide synthase gene on blood pressure].

[Effects of G894T mutation in the endothelial nitric oxide synthase gene on blood pressure].
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内皮型一氧化氮合酶基因G894T突变对血压的影响[J].

DOI:
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发表时间:
2003
影响因子:
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通讯作者:
C. Jia
C. Jia
中科院分区:
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文献类型:
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作者:
C. Jia;Zhong;Li;F. Hao;Yue;Shu;Xiao;C. Jia

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目的 分析内皮型一氧化氮合酶基因第7外显子G894 T(Glu 298 Asp)突变与原发性高血压的关系。 方法 本研究以某钢铁厂116例未服用高血压药物的原发性高血压患者和136例血压正常者为研究对象。采用聚合酶链反应(PCR)和Ban Ⅱ限制性内切酶酶切检测G894 T突变。 结果 G894 T突变与原发性高血压显著相关。原发性高血压组T等位基因频率显著高于正常血压组(16.0%vs8.8%,P = 0.019,OR = 1.96,95% CI:1.14 ~ 3.37)。G894 T突变基因型在高血压组、正常血压组和总血压组的收缩压和舒张压水平均显著升高(P < 0.05)。经多元协方差分析调整年龄、性别、吸烟、饮酒、体重指数、甘油三酯、血清总胆固醇、血清高密度脂蛋白胆固醇等因素后,G894 T突变基因型对全体受试者的血压有显著的正影响(P < 0.01)。 结论 本研究表明,内皮型一氧化氮合酶基因G894 T突变可能是该研究人群原发性高血压的主要危险因素。
OBJECTIVE To analyze the association between G894T (Glu298Asp) mutation at exon 7 in the endothelial nitric oxide synthase gene and essential hypertension. METHODS One hundred and sixteen essential hypertensives without taking hypertensive medication and 136 normotensives screened from health workers in a steel factory were selected as subjects in this study. Polymerase chain reaction (PCR) and Ban II restriction enzyme digestion were performed to detect the G894T mutation. RESULTS G894T mutation was significantly associated with essential hypertension. The T allele frequency in essential hypertensive group was significantly higher than that in normotensive group (16.0% versus 8.8%, P = 0.019, OR = 1.96, 95% CI: 1.14 - 3.37). The levels of systolic blood pressure and diastolic blood pressure in the G894T mutant genotypes were all significantly elevated in hypertensive, normotensive, and the total subjects (P < 0.05). After adjusting factors as age, sex, smoking, alcohol drinking, body mass index, triglyceride, serum total cholesterol, serum high density lipoprotein cholesterol by analysis of multiple covariance, significant positive effect of the G894T mutant genotypes on blood pressure in the total subjects (P < 0.01) was noticed. CONCLUSION This study suggested that the G894T mutation in the endothelial nitric oxide synthase gene might serve as a major risk factor of essential hypertension in this study population.