桂西地区壮族IgA肾病肾素-血管紧张素系统基因多态性分析

Analysis of renin angiotensin system gene polymorphism with IgA nephropathy in Zhuang minority population of Western Guangxi

目的研究肾素-血管紧张素系统(RAS)3个关键基因血管紧张素Ⅱ1型受体(AT1R)基因A1166C多态、血管紧张素I转化酶(ACE)基因插入/缺失(I/D)多态和血管紧张素原(AGT)基因M235T多态在桂西地区壮族IgA肾病中的作用。方法选取原籍桂西地区的壮族IgA肾病患者68例(肾病组),根据HAAS分级又分为<Ⅲ级组和≥Ⅲ级组,并选取70例健康体检者作为健康对照组。采用直接聚合酶链反应和聚合酶链反应-限制性片段长度多态性技术检测AT1R A1166C、ACE I/D和AGT M235T基因型和等位基因在各组中的分布。结果肾病组ACE基因I/D多态性与健康对照组比较差异有显著性,DD基因型和D等位基因在肾病组中占显著优势(P<0.05),AT1R基因A1166C、AGT基因M235T多态在二组中分布差异无显著性。而不同HAAS病理分级比较,ACE I/D多态DD基因型在≥Ⅲ级组中占显著优势(P<0.05),AT1R A1166C和AGT M235T基因型与等位基因分布频率差异均无显著性。结论 ACE I/D多态的DD基因和D等位基因是桂西地区壮族IgA肾病发生的易感因素之一,携带DD基因患者易于表现为严重病理分级。

[Objective ] To investigate the effect of angiotensin II type 1 receptor （AT1R） gene A1166C polymorphism, angiotensin I converting enzyme （ACE） gene insertion/deletion （I/D） polymorphism and angiotensinogen （AGT） gene M235T polymorphism in patients with IgA nephropathy among Guangxi Zhuang minority population. [Methods ] 68 cases of IgA nephropathy （nephropathy group） and 70 cases of healthy adult （healthy control group） were selected among Guangxi Zhuang minority population. According to the HAAS classification, nephropathy group was divided into two groups： 42 cases of 〈 11I grade group and 26 cases of ≥ Ⅲ grade group. Genotype and allele distribution of AT1R Al166C, ACE I/D and AGT M235T in each group were analyzed by direct polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism technique. [ Results ] The distribution of ACE gene I/D polymorphism in nephropathy group compared with health control group had significant difference, the distribution of DD genotype and D allele in nephropathy group accounted for a significant advantage （P 〈0.05）. Distribution of AT1R A1166C gene and AGT M235T gene polymorphisms in nephropathy group had no significant difference compared with health control group. The distribution of D allele in ≥ m grade group accounted for a significant advantage, while genotype and allele frequency distributions of AT1R Al166C and AGT M235T in 〈 m grade group had no significant difference compared with≥ Ⅲ grade group. [ Conclusion ] DD gene and D allele of ACE I/D polymorphism are the predisposing factors of IgA nephropathy among Guangxi Zhuang minority population. Patients carrying the DD gene show more severe pathological grades.