Midan Dina Abdel Razek, Elhelbawy Nesreen Gamal, Habib Mona Salah El-Din, Ahmedy Iman Aly, Noreldin Rasha Ibrahim
Department of Pediatrics, Faculty of Medicine, Menoufia University, Shbeen El Kom, Menoufia, Egypt.
Iran J Kidney Dis. 2017 Nov;11(6):414-421.
Idiopathic nephrotic syndrome (INS) is a glomerular disease with completely unclear pathogenesis and different responses to steroid therapy. This study aimed to investigate the role of cytokine genes promoter polymorphisms in steroid therapy responses.
One hundred children with INS and 30 healthy controls were studied. Genotyping of TNF-α-G308A single nucleotide polymorphism was done using polymerase chain reaction-restriction fragment length polymorphism method, while of IL-6-G174C single nucleotide polymorphism was done using real-time polymerase chain reaction.
The IL-6-G174C exhibited a significantly different genotype distribution among the children with INS compared with the controls (GG versus CC, P = .02; GG versus GC, P = .003; odds ratio [OR], 5.83; 95% confidence interval [CI], 1.64 to 20.70; as well as alleles distribution of G versus C, P ? .001; OR, 7.57; 95% CI, 2.28 to 25.17). With regard to TNF-α-G308A genotype, there was no significant difference in genotype distribution of the children with INS compared with the controls, but a significant difference was observed at the alleles level. Comparing the steroid-resistant group with the steroid-sensitive group, significant association was found at genotypic level in case of IL-6-G174C (GG versus CC, P = .03; OR, 5.52; 95% CI, 1.39 to 21.89), but no association was found regarding GG versus GC. At the allelic level of IL-6-G174C, there was no significant association either.
IL-6-G174C and TNFα-G308A polymorphisms may affect susceptibility to idiopathic nephrotic syndrome and might affect steroid response in INS patients.
特发性肾病综合征(INS)是一种发病机制完全不明且对类固醇治疗反应各异的肾小球疾病。本研究旨在探讨细胞因子基因启动子多态性在类固醇治疗反应中的作用。
对100例INS患儿及30例健康对照进行研究。采用聚合酶链反应-限制性片段长度多态性方法对TNF-α -G308A单核苷酸多态性进行基因分型,采用实时聚合酶链反应对IL-6 -G174C单核苷酸多态性进行基因分型。
与对照组相比,INS患儿中IL-6 -G174C的基因型分布存在显著差异(GG与CC相比,P = 0.02;GG与GC相比,P = 0.003;比值比[OR],5.83;95%置信区间[CI],1.64至20.70;以及G与C的等位基因分布,P < 0.001;OR,7.57;95% CI,2.28至25.17)。关于TNF-α -G308A基因型,INS患儿与对照组的基因型分布无显著差异,但在等位基因水平观察到显著差异。将类固醇抵抗组与类固醇敏感组进行比较,在IL-6 -G174C的基因型水平发现显著关联(GG与CC相比,P = 0.03;OR,5.52;95% CI,1.39至21.89),但GG与GC之间未发现关联。在IL-6 -G174C的等位基因水平也未发现显著关联。
IL-6 -G174C和TNFα -G308A多态性可能影响特发性肾病综合征的易感性,并可能影响INS患者的类固醇反应。