【摘要】 目的　探讨内皮型一氧化氮合酶 (eNOS)基因启动子 786T→C、第 4内含子VNTR及第 7外显子 894G→T多态性与肝硬化门静脉高压之间的关系。方法　采用病例对照和聚合酶链反应 单链构像多态性 (PCR SSCP)及限制性片段长度多态性 (PCR RFLP)等技术 ,检测了 10 6例乙型肝炎后肝硬化病人和 10 8名健康对照者eNOS基因的多态性改变 ,比较等位基因及基因型频率 ,并进行联合分析。结果　eNOS基因启动子 786T→C多态性中 ,G等位基因和GT基因型频率在乙型肝炎后肝硬化组 (LC)及门静脉高压症组 (LC+ )和单纯肝硬化组 (LC-)与对照组之间差异无显著意义 (P>0 0 5 ) ;eNOS基因第 4内含子VNTR多态性中 ,LC+ 组a等位基因及ab基因型频率高于其他组 (P<0 0 5 ) ;eNOS基因第 7外显子 894G→T多态性中 ,LC+ 组T等位基因和TG基因型频率高于其他组 (P <0 0 1) ;采用Logistic多元回归分析显示 ,eNOS基因第 7外显子 894G→T多态性及第 4内含子VNTR多态性是门静脉高压症新的独立危险因素。结论　eNOS基因第 7外显子T等位基因及第4内含子a等位基因与门静脉高压症的发生密切相关 ,是门静脉高压症形成的两个新的独立危险因素。TGab基因型可能是门静脉高压症的易感基因型。更多还原

【Abstract】 Objective To study whether the liver cirrhosis and portal hypertension are associated with a -786T→C mutation at promoter and VNTR polymorphism in intron 4 and a 894 G→T mutation at exon 7 of the eNOS.Methods A case control study of 106 patients with liver cirrhosis due to HBV was performed in comparison with 108 controls with the help of PCR-SSCP or RFLP.Results There was no difference in the gene frequency of allele G of promoter between LC + group and other groups.The frequencies of the T and TG genotype at exon7 and the a allele and ab genotype in intron 4 were significantly higher in portal hypertension group(LC +) than in liver cirrhosis group alone and control group ( P <0.05).Patients of the liver cirrhosis with coexistence of the T and a alleles had a higher incidence of portal hypertension ( P <0.05) than those with only one of the two alleles or without any of the two alleles.Multivariate logistic regression analysis revealed that VNTR polymorphism in intron 4 and 894 G→T mutation at exon 7 of the eNOS gene are independent risk factors for the occurrence of portal hypertension in patients with liver cirrhosis.Conclusion The T allele at exon 7 and a allele in intron 4 are associated with the occurrence of portal hypertension in patients with liver cirrhosis.The ocurrence of portal hypertension with liver cirrhosis is higher in patients who have both T and a allele than patients who have either T or a allele alone, which is an independent risk in occurrence of portal hypertension, respectively.TGab may be susceptibility genotype of portal hypertension.更多还原