儿童紫癜性肾炎肿瘤坏死因子α基因多态性分析

Association of tumor necrosis factor-alpha gene polymorphisms with Henoch-Sch-nlein purpura nephritis in children

摘要:

目的：探讨肿瘤坏死因子α（TNF-α）-308G/A基因多态性与儿童紫癜性肾炎（HSPN）的关系。方法应用聚合酶链反应（PCR）扩增产物直接测序方法对110例过敏性紫癜（HSP组）汉族儿童进行TNF-α-308G/A基因型分析，包括紫癜性肾炎52例（HSPN组），无合并肾炎58例（单纯HSP组）。酶联免疫吸附法检测血浆TNF-α水平。90例健康汉族儿童作为对照组。结果HSP组TNF-α-308基因型分布频率与对照组比较差异无统计学意义（P>0.05）。HSPN组GA基因型（29%）、A等位基因频率（18%）均明显高于单纯HSP组（分别为10%和7%，P<0.05），其中GA+AA 基因型患儿血浆TNF-α水平（7.1±2.3 pg/mL）较GG基因型患儿（5.7±1.5 pg/mL）明显升高（P<0.05）。结论TNF-α-308G/A 基因多态性与HSP儿童肾脏损害的发生有关，A等位基因可能是儿童HSPN的易感基因。

Abstract:

OBJECTIVE: To study the relationship of tumor necrosis factor-alpha (TNF-α)-308G/A gene polymorphisms with Henoch-Sch-nlein purpura nephritis (HSPN) in children. METHODS: Using the direct DNA sequencing method, polymorphisms in the TNF-α promoter region (-308) were genotyped in 110 Han children with Henoch-Sch-nlein purpura (HSP group), including 52 children with nephritis and 58 children without nephritis. Plasma TNF-α levels were measured using ELISA. Ninety ethnically matched healthy children were used as the control group. RESULTS: There were no significant differences in the polymorphisms of TNF-α (-308G/A) between the HSP and control groups (P>0.05). The GA genotype (29% vs 10%) and A allele frequency (18% vs 7%) in HSP children with nephritis (HSPN) were more common than in those without nephritis (P<0.05). Plasma TNF-α levels in HSPN children with GA+AA genotype (7.1±2.3 pg/mL) were significantly higher than those with GG genotype (5.7±1.5 pg/mL) (P<0.05). CONCLUSIONS: TNF-α-308GA genotype and A allele may contribute to the increased risk for the development of nephritis in children with HSP.