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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >The association of single nucleotide polymorphism of interleukin-21 gene and serum interleukin-21 levels with systemic lupus erythematosus
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The association of single nucleotide polymorphism of interleukin-21 gene and serum interleukin-21 levels with systemic lupus erythematosus

机译：白细胞介素21基因单核苷酸多态性和血清白细胞介素21水平与系统性红斑狼疮的相关性

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Background Systemic lupus erythematosus (SLE) is a common autoimmune disorder which commonly results from the combined effects of a large number of genes. Variations in the DNA sequence in the Interleukin-21 (IL-21) gene may lead to altered IL-21 production and/or activity which can affect an individual’s susceptibility to SLE. IL-21 is a novel class I cytokine produced by activated CD4 + T cells, natural killer T cells and T helper (Th) cells. There is increasing evidence that IL-21 contributes to the pathogenesis of SLE due to its biological activity. Aim of the study To investigate the association between single nucleotide polymorphism (SNP) of IL-21 rs2221903 gene and serum IL-21 levels with SLE and to detect the possible association between IL-21 serum levels and the pathogenesis of the disease. Subjects and methods This study was conducted on 30 SLE patients and 20 age and sex matched healthy controls. Serum IL-21 levels were measured using enzyme-linked immunosorbent assay (ELISA) technique and SNP of IL-21 rs2221903 gene was detected by genotyping assay, using real time polymerase chain reaction (RT-PCR). Results Serum Il-21 levels were significantly higher in patients compared with controls ( p 0.001). Patients with high activity index of SLE had significantly higher levels of serum IL-21 ( p value 0.001). A statistically significant association was found between the T allele of SNP rs2221903 and SLE, whereas; no association between SNP of IL-21 rs2221903 genotypes and SLE or serum IL-21 levels could be detected. Conclusion IL-21 plays an important role in the immune-pathogenesis of SLE and could be used as a possible target for novel immunotherapy. The T allele of SNP rs2221903 suggests that the IL-21 gene may contribute to an inherited predisposition to SLE.
机译：背景系统性红斑狼疮（SLE）是一种常见的自身免疫性疾病，通常是由大量基因的综合作用导致的。白介素21（IL-21）基因中DNA序列的变化可能导致IL-21产生和/或活性改变，从而影响个人对SLE的易感性。 IL-21是由活化的CD4 + T细胞，自然杀伤性T细胞和T辅助（Th）细胞产生的新型I类细胞因子。越来越多的证据表明，IL-21由于其生物活性而有助于SLE的发病。研究目的探讨SLE患者IL-21 rs2221903基因的单核苷酸多态性（SNP）与血清IL-21水平之间的关联，并检测IL-21血清水平与疾病发病机理之间的可能联系。对象和方法本研究针对30例SLE患者和20位年龄和性别相匹配的健康对照者进行。使用酶联免疫吸附测定（ELISA）技术测量血清IL-21水平，并使用实时聚合酶链反应（RT-PCR）通过基因分型测定法检测IL-21 rs2221903基因的SNP。结果与对照组相比，患者的血清IL-21水平明显升高（p <0.001）。 SLE活动指数高的患者血清IL-21水平明显升高（p值<0.001）。在SNP rs2221903的T等位基因和SLE之间发现了统计学上显着的关联，而IL-21 rs2221903基因型的SNP与SLE或血清IL-21水平之间没有关联。结论IL-21在SLE的免疫发病机制中起着重要的作用，可作为新型免疫疗法的靶标。 SNP rs2221903的T等位基因表明，IL-21基因可能是SLE的遗传易感性。

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