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目的 研究内皮素 1(ET 1)基因TaqI多态性与肝硬化门静脉高压症的相关性 ,寻找新的门静脉高压形成的危险因素。方法 采用病例对照、聚合酶链反应 限制性片段长度多态性 (PCR RFLP)方法 ,分别对 10 6例乙型肝炎后肝硬化患者和 10 8名健康对照者ET 1基因内含子 4处TaqI多态性进行分析 ,并用放射免疫法检测外周血ET 1浓度。结果 门静脉高压症组TaqIC等位基因频率和CC +TC基因型频率明显高于正常对照组 ( 2 5 4%vs 16 7%、46 2 %vs 2 9 6 %) ,差异有显著意义( χ2 =4 2 6 ,OR =1 95P <0 0 5 )。提示ET 1基因TaqI多态性与门静脉高压症相关 ;在门静脉高压症组中CC与TC基因型者外周血ET 1浓度显著高于TT基因型者 (P <0 0 5 )。相关分析发现 ,ET 1基因TaqI多态性与外周血ET 1的浓度呈正相关。表明ET 1基因TaqI多态性影响ET 1的表达 ;应用Logistic多元回归分析门静脉高压形成的危险因素 ,发现ET 1基因TaqI多态性是门静脉高压形成的一个独立的危险因素。结论 ET 1基因TaqI多态性与肝硬化门静脉高压形成相关 ,可能是门静脉高压形成的危险因素之一。
Objective To investigate the relationship between ET1 gene TaqI polymorphism and cirrhotic portal hypertension in order to find a new risk factor for portal hypertension. Methods The case-control and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods were used to detect the ET1 gene intron in 106 patients with post-hepatitis B cirrhosis and 10 healthy controls. Polymorphisms were analyzed and radioimmunoassay was used to detect ET1 concentration in peripheral blood. Results The frequencies of TaqIC alleles and CC + TC genotypes in patients with portal hypertension were significantly higher than those in controls (2 5 4% vs 16 7%, 46 2% vs 29 6%) (χ 2 = 4 2 6, OR = 1 95P <0 0 5). It is suggested that the ET1 gene TaqI polymorphism is associated with portal hypertension. In the patients with portal hypertension, the ET1 concentrations in peripheral blood of CC and TC genotypes were significantly higher than those of TT genotypes (P <0.05). Correlation analysis showed that there was a positive correlation between ET1 gene TaqI polymorphism and ET1 concentration in peripheral blood. The results showed that TaqI polymorphism of ET1 gene affected the expression of ET1. Logistic multiple regression analysis was used to analyze the risk factors of portal hypertension. It was found that TaqI polymorphism of ET1 gene was an independent risk factor of portal hypertension. Conclusion The TaqI polymorphism of ET 1 gene is associated with the formation of portal hypertension in cirrhotic patients and may be one of the risk factors for the formation of portal hypertension.