摘要目的：筛选儿童激素抵抗型肾病综合征患儿的DNA异常甲基化谱，分析其生物学信息，探讨激素抵抗肾病综合征的发病机制，为治疗提供新靶标。方法采用Illumina 450K甲基化芯片技术检测9例原发性肾病综合征患儿血液全基因组甲基化。9例患儿按照激素治疗疗效分为两组：激素敏感型肾病综合征（SSNS）组，4例；激素抵抗型肾病综合征（SRNS）组，5例。筛选出DNA异常甲基化谱，通过基因本体（GO）功能注释、富集分析和KEGG信号转导通路富集分析，初步对儿童激素抵抗型肾病综合征基因甲基化情况进行分析。结果与SSNS组相比，SRNS组患儿存在广泛基因组异常甲基化。生物信息学分析结果提示，SRNS组的基因组DNA异常甲基化谱是多种细胞器、胞膜的构成成分，调控细胞骨架、肌动蛋白等的聚合和组成，参与了多种氨基酸及药物代谢的过程。结论 SRNS患儿表现为异常甲基化的基因作用广泛，具有临床预测和寻找潜在治疗靶点的可能。

abstractsObjective Through selecting abnormal DNA methylation of children steroid resistance nephrotic syndrome and bioinformatics analysis to find the pathogenesis of steroid resistance nephrotic syndrome and provide new targets for therapy. Methods We use illumine 450K methylation chip to detected blood gene DNA methylation of 9 cases of children primary nephrotic syndrome. 9 cases were divided into 2 groups: G1 is the group of steroid sensitive nephritic syndrome, a total of 4 cases; G2 is the group of steroid resistance nephrotic syndrome, a total of 5 cases. Selected the abnormal DNA methylation in children steroid resistant nephritic syndrome, clarified the function of those genes through using functional annotation of gene GO, enrichment analysis and KEGG pathway analysis, conducted the preliminary analysis on children with steroid resistant nephrotic syndrome of gene methylation. Results Compared with the control group, G2 has a number of genes that were extensively methylated. According to the results of bioinformatics analysis, the abnormal DNA methylation in G2 is the components of the various kinds of organelles and cell membrane. They also regulated the polymerization and composition of cytoskeleton and actin, as well as involved in the process of metabolism of many amino acids and drug. Conclusions The abnormal DNA methylation in the group 2 have extensive role, offering possibility of clinical prediction and provided potential therapeutic targets.