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Polymorphisms in the interleukin 4, interleukin 13, and corresponding receptor genes are not associated with systemic sclerosis and do not influence gene expression

机译：白细胞介素4，白细胞介素13和相应受体基因的多态性与系统性硬化无关，不影响基因表达

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Objective. Polymorphisms in the genes encoding interleukin 4 (IL4), interleukin 13 (IL13), and their corresponding receptors have been associated with multiple immune-mediated diseases. Our aim was to validate these previous observations in patients with systemic sclerosis (SSc) and scrutinize the effect of the polymorphisms on gene expression in various populations of peripheral blood leukocytes. Methods. We genotyped a cohort of 2488 patients with SSc and 2246 healthy controls from The Netherlands, Spain, United Kingdom, Italy, Germany, and France. Taqman assays were used to genotype single-nucleotide polymorphisms (SNP) in the following genes: (1) IL4 (-590C>T/rs2243250); (2) IL4 receptor alpha (IL4RA) (Q576R/rs1801275); (3) IL13 (R130Q/rs20541 and -1112C>T/rs1800925); and (4) IL13RA1 (43163G>A/rs6646259). The effect of these polymorphisms on expression of the corresponding genes was assessed using quantitative RT-PCR on RNA derived from peripheral blood B cells, T cells, plasmacytoid dendritic cells, monocytes, and myeloid dendritic cells. We investigated whether these polymorphisms influenced development of pulmonary complications over 15 years in patients with SSc. Results. None of the investigated polymorphisms was associated with SSc or any SSc clinical subtype. We did not observe any effect on transcript levels in the cell subtypes or on development of pulmonary complications. Conclusion. Our data showed that polymorphisms in IL4, IL13, and their receptors do not play a role in SSc and do not influence the expression of their corresponding transcript in peripheral blood cells. The Journal of Rheumatology Copyright © 2012. All rights reserved.
机译：目的。编码白介素4（IL4），白介素13（IL13）及其相应受体的基因的多态性与多种免疫介导的疾病有关。我们的目的是验证先前在系统性硬化症（SSc）患者中的观察结果，并仔细研究多态性对外周血白细胞各种人群中基因表达的影响。方法。我们对来自荷兰，西班牙，英国，意大利，德国和法国的2488例SSc患者和2246例健康对照进行了基因分型。 Taqman分析用于在以下基因中对单核苷酸多态性（SNP）进行基因分型：（1）IL4（-590C> T / rs2243250）； （2）IL4受体α（IL4RA）（Q576R / rs1801275）; （3）IL13（R130Q / rs20541和-1112C> T / rs1800925）; （4）IL13RA1（43163G> A / rs6646259）。使用定量RT-PCR对衍生自外周血B细胞，T细胞，浆细胞样树突状细胞，单核细胞和髓样树突状细胞的RNA进行定量RT-PCR评估了这些多态性对相应基因表达的影响。我们调查了这些多态性是否会影响SSc患者超过15年的肺部并发症的发展。结果。没有调查的多态性与SSc或任何SSc临床亚型相关。我们没有观察到对细胞亚型的转录水平或肺部并发症的发展有任何影响。结论。我们的数据表明，IL4，IL13及其受体的多态性在SSc中不起作用，并且不影响外周血细胞中其相应转录本的表达。风湿病杂志版权所有©2012。保留所有权利。

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