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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Association of variable number tandem repeats polymorphism in the IL-4 gene with end-stage renal disease in children
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Association of variable number tandem repeats polymorphism in the IL-4 gene with end-stage renal disease in children

机译：儿童终末期肾脏疾病中IL-4基因可变数目串联重复序列多态性的关联

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Background End stage renal disease (ESRD) is a common cause of morbidity and mortality among children. Interleukin 4 is a cytokine that might influence the progression of chronic kidney disease (CKD) to end stage renal disease. There are variable number of tandem repeats (VNTRs) in IL4 gene that could play major roles in genetic predisposition to some diseases. Aim of the study: The purpose of this study is to detect the association of allelic variant in intron 3 VNTR-IL4 gene with the end stage renal disease and if these variants could be considered as risk markers for this disease. Subjects and methods The study was conducted on fifty-five children with CKD and fifty healthy children served as controls. All participants were genotyped for intron 3 VNTR by Polymerase Chain Reaction. Results The frequency of intron 3 VNTR-IL4 P1P2+P2P2 genotypes was significantly higher in ESRD-children than those with P1P1 genotype (88.7% vs. 15.4%, OR 43; 95% CI 13–134, P value<0.001). Also, the frequency of P2 allele was significantly higher in ESRD-children compared with healthy controls (70.9% vs. 8%, OR 28; 95% CI 12–64, P value<0.001). Furthermore, a significantly higher frequencies of P1P1 genotype and P1 allele among the control group were demonstrated (84.6% vs. 11.3%, P<0.001 and 92% vs. 29.1%, P<0.001, respectively). Conclusion we concluded that the P2 allele is an allelic variant predisposing to ESRD in children with CKD and it could be considered a risk factor for the development of ESRD.
机译：背景终末期肾脏疾病（ESRD）是儿童发病和死亡的常见原因。白细胞介素4是一种细胞因子，可能会影响慢性肾脏病（CKD）到晚期肾脏疾病的进展。 IL4基因中的串联重复序列（VNTRs）数量可变，可能在某些疾病的遗传易感性中起主要作用。研究的目的：这项研究的目的是检测内含子3 VNTR-IL4基因中的等位基因变异与终末期肾脏疾病的关联，以及是否可以将这些变异视为该疾病的危险标记。受试者和方法本研究针对55名CKD儿童和50名健康儿童作为对照。通过聚合酶链反应对所有参与者进行内含子3 VNTR基因分型。结果ESRD患儿内含子3 VNTR-IL4 P1P2 + P2P2基因型的频率显着高于P1P1基因型儿童（88.7％比15.4％，OR 43; 95％CI 13–134，P值<0.001）。而且，与健康对照组相比，ESRD儿童中P2等位基因的频率明显更高（70.9％vs. 8％，OR 28; 95％CI 12–64，P值<0.001）。此外，在对照组中，P1P1基因型和P1等位基因的频率明显更高（分别为84.6％对11.3％，P <0.001和92％对29.1％，P <0.001）。结论我们得出的结论是，P2等位基因是CKD儿童易患ESRD的等位基因变异，可以将其视为ESRD发生的危险因素。

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