肝肾综合征患者血管紧张素转换酶基因多态性研究

The study of the enzyme gene polymorphism in hepatorenal syndrome

目的探讨失代偿性肝硬化并发肝肾综合征（HRS）患者血管紧张素转换酶（ACE）基因插入缺失（I／D）多态性。方法对96例失代偿性肝硬化并HRS患者及各对照组采用聚合酶链反应扩增其ACE基因上的DNA片断，根据I／D来判断其多态性，同时各例均采血测ALT、AST、血清肌酐（SCr）及尿素氮（BUN）等指标，并测。肾小球滤过率（GFR），比较不同基因型间这些指标的差异。结果HRS患者中，各基因型及等位基因频率与各对照组间差异均无统计学意义（均P〉0．05）；除其他肝病组外，各组Ⅰ等位基因频率均显著高于D等位基因频率（均P〈0．01），各对照组中，三种基因型频率间差异无统计学意义（P〉0．05），HRS组中，Ⅱ基因型频率显著高于ID及DD型（P〈0．05）。Ⅱ基因型的SCr等显著高于ID型及DD型（均P〈0．05），GFR显著低于ID型及DD型（P〈0．05）。结论ACE基因Ⅱ型可能为失代偿性肝硬化易并发HRS的遗传学因素。

Objective To investigate the insertion/deletion（I/D） polymorphism of ACE gene in uncompensated hepatocirrhosis with hepatorenal syndrome（HRS）. Methods ACE I/D polymorphism was detected by poly- merase chain reaction amplification of DNA fragment in 96 cases of uncompensated hepatocirrhosis with HRS, every group as controls were involved in this study. At the same time, GPT, GOT, serum creatinine（ SCr）, blood urea nitrogen（BUN） and glomerular filtration rate（GFR） of every case were measured and the difference of these targets among different genotypes were compared. Results There was no significant difference for every genotype and allele frequency between the HRS group and every group as controls （P 〉 0.05）. The Ⅰ allele frequencies were higher than the one of D allele for every groups except other liver disease group（P 〈0. 01 ）. But in the every group as controls, there was no significant difference for the genotype frequency among three groups and in the HRS group, the Ⅱ genotype frequency was higher than the one of ID and DD（P 〈0. 05）. SCr etc. of the Ⅱ genotype were higher than the one of ID and DD（P 〈 0. 05 ） and GFR of the Ⅱ genotype was lower than the one of ID and DD in the HRS group （ P 〈 0. 05）. Conclusion There was relationship between ACE gene polymorphism and the incidence of uncompensated hepatocirrhosis with HRS.