Single Nucleotide Polymorphisms in Pediatric Idiopathic Nephrotic Syndrome.
Single Nucleotide Polymorphisms in Pediatric Idiopathic Nephrotic Syndrome.
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DOI：
10.1155/2016/1417456
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发表时间：
2016
影响因子：
2.1
通讯作者：
Jalanko H
中科院分区：
文献类型：
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作者：
Suvanto M;Jahnukainen T;Kestilä M;Jalanko H
参与肾小球功能和药物代谢的几个分子的多态变异与儿童特发性肾病综合征(INS)的病理生理学有关，但结果仍然不一致。我们分析了100例INS患者8个基因(血管生成素样4(ANGPTL4)、GPC5(GPC5)、白介素13(IL-13)、巨噬细胞移动抑制因子(MIF)、神经型一氧化氮合酶(NNOS)、多药耐药-1(MDR1)、糖皮质激素诱导转录本-1(GLCCI1)和核受体亚家族-3(NR3C1))11个等位基因变异的相关性。我们使用聚合酶链式反应和直接测序对变异进行了基因分型，并评估了mdr1变异的估计单倍型。分析表明，患者和对照组之间的SNP基因频率或患者之间的临床参数几乎没有差异。Mdr1 SNPs rs1236、rs2677和rs3435的基因型分布与不同的用药方案(仅使用糖皮质激素与糖皮质激素加附加免疫抑制剂)显著相关(p<；0.05)。ANGPTL4、GPC5、GLCCI1和NR3C1变异与不同的用药方案、复发次数和发病年龄之间存在一定的边缘关联。结论。虽然MDR1变异基因的分布与不同的用药方案有关，但其他被分析的基因变异在INS中的临床相关性很小或很小。
Polymorphic variants in several molecules involved in the glomerular function and drug metabolism have been implicated in the pathophysiology of pediatric idiopathic nephrotic syndrome (INS), but the results remain inconsistent. We analyzed the association of eleven allelic variants in eight genes (angiopoietin-like 4 (ANGPTL4), glypican 5 (GPC5), interleukin-13 (IL-13), macrophage migration inhibitory factor (MIF), neural nitric oxide synthetase (nNOS), multidrug resistance-1 (MDR1), glucocorticoid-induced transcript-1 (GLCCI1), and nuclear receptor subfamily-3 (NR3C1)) in 100 INS patients followed up till adulthood. We genotyped variants using PCR and direct sequencing and evaluated estimated haplotypes of MDR1 variants. The analysis revealed few differences in SNP genotype frequencies between patients and controls, or in clinical parameters among the patients. Genotype distribution of MDR1 SNPs rs1236, rs2677, and rs3435 showed significant (p < 0.05) association with different medication regimes (glucocorticoids only versus glucocorticoids plus additional immunosuppressives). Some marginal association was detected between ANGPTL4, GPC5, GLCCI1, and NR3C1 variants and different medication regimes, number of relapses, and age of onset. Conclusion. While MDR1 variant genotype distribution associated with different medication regimes, the other analyzed gene variants showed only little or marginal clinical relevance in INS.