广西西部地区壮族难治性肾病综合征患儿肾素-血管紧张素系统基因多态性研究

目的 研究肾素-血管紧张素(RAS)系统3个关键基因血管紧张素Ⅱ1型受体(AT1R)基因A1166C多态性、血管紧张素Ⅰ转化酶(ACE)基因插入/缺失(I/D)多态性和血管紧张素原(AGT)基因M235T多态性在广西西部地区壮族原发性肾病综合征(PNS)患儿激素敏感组和难治组中的分布,探讨RAS基因多态性在儿童难治性肾病综合征(NS)中的作用.方法 选取原籍广西西部地区的壮族PNS患儿62例(肾病组),根据其对激素的治疗反应分为显效组42例(激素敏感型NS组)和难治组20例(难治性NS组),并选取50例健康儿童作为健康对照组.采用直接PCR和PCR-限制性片段长度多态性技术检测RAS ACE基因I/D多态性、AT1R基因A1166C多态性和AGT基因M235T多态性在各组中的分布,并进行统计学比较.结果 肾病组ACE基因I/D多态性与健康对照组比较差异有统计学意义,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多态性在2组中分布的差异无统计学意义.难治性NS组与激素敏感型NS组比较,AT1R A1166C、ACE 1/D和AGT M235T基因型与等位基因分布频率差异均无统计学意义.结论 ACE I/D多态性的D等位基因是广西西部地区壮族PNS患儿易感因素之一,未能发现RAS基因多态性在广西西部地区壮族儿童难治性NS中的作用.

Study on Gene Polymorphism of Renin Angiotensin System in Refractory Nephrotic Syndrome Children in Zhuang Population of West Guangxi Zhuang Autonomous Region

Objective To study the distributions 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 Zhuang children of West Guangxi Zhuang Autonomous Region with primary nephrotic syndrome(PNS),which included steroid sensitive group and refractory group.To explore the effect of renin angiotensin system(RAS)gene polymorphism in children with refractory nephrotic syndrome(NS). Methods Sixty-two cases of West Guangxi Zhuang Autonomous Region with PNS(nephropathy group) were selected.According to the hormone treatment response,they were divided into 2 groups:42 cases of steroid sensitive NS group and 20 cases of refractory NS group.And then 50 cases of healthy children were selected as healthy control group.ACE gene I/D polymorphism,AT1R gene A1166C polymorphism and AGT gene M235T polymorphism in each group were detected by using direct polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism technique.The distributions of 3 genes polymorphism in each group were statistically compared. Results The difference of ACE gene I/D polymorphism between nephropathy group,compared with that in health control group,were statistically significant,and the distribution of D allele in nephropathy group accounted for a significant advantage(P< 0.05).Distribution of AT1R A1166C gene and AGT M235T gene polymorphisms had no significant difference in nephropathy group and healthy control group.Genotype and allele frequency distributions of AT1R A1166C,ACE I/D and AGT M235T had no significant difference between refractory NS group and steroid sensitive NS group. Conclusions D allele of ACE I/D polymorphism is one of the predisposing factors of PNS in Zhuang children of West Guangxi Zhuang Autonomous Region.Studies have not found the effect of RAS gene polymorphism in children with refractory NS.