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白细胞介素 17A 基因对免疫球蛋白 A 血管炎发病机制的影响。

Influence of IL17A gene on the pathogenesis of immunoglobulin-A vasculitis.

机构信息

Epidemiology, Genetics and Atherosclerosis Research Group on Systemic Inflammatory Diseases, IDIVAL, Santander, Spain.

Division of Paediatrics, Hospital Universitario San Cecilio, Granada, Spain.

出版信息

Clin Exp Rheumatol. 2020 Mar-Apr;38 Suppl 124(2):166-170. Epub 2020 Mar 25.

Abstract

OBJECTIVES

Cytokines signaling pathway genes represent a key component of the genetic network implicated in the pathogenesis of immunoglobulin-A vasculitis (IgAV), an inflammatory vascular pathology. Interleukin (IL)17A is described as a genetic risk locus for some autoimmune diseases, such as giant cell arteritis and spondyloarthritis. Accordingly, we aimed to determine the potential influence of IL17A on the pathogenesis of IgAV.

METHODS

Five IL17A tag polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909), which cover the major variability of this gene, were genotyped in 360 Caucasian patients with IgAV and 1,003 sex and ethnically matched healthy controls using TaqMan probes.

RESULTS

No statistically significant differences between patients with IgAV and healthy controls were observed when each IL17A genetic variant was analysed independently. Similarly, no statistically significant differences between patients with IgAV and healthy controls were found when the five IL17A polymorphisms were evaluated combined conforming haplotypes. In addition, there were no statistically significant differences in genotype, allele and haplotype frequencies of IL17A when patients with IgAV were stratified according to the age at disease onset or to the presence/absence of gastrointestinal or renal manifestations.

CONCLUSIONS

Our results do not support an influence of IL17A on the pathogenesis of IgAV.

摘要

目的

细胞因子信号通路基因是免疫球蛋白 A 血管炎(IgAV)发病机制中遗传网络的关键组成部分,IgAV 是一种炎症性血管病理。白细胞介素(IL)17A 被描述为一些自身免疫性疾病(如巨细胞动脉炎和脊柱关节炎)的遗传风险基因座。因此,我们旨在确定 IL17A 对 IgAV 发病机制的潜在影响。

方法

对 360 名高加索裔 IgAV 患者和 1003 名性别和种族匹配的健康对照者使用 TaqMan 探针,对 IL17A 的 5 个标签多态性(rs4711998、rs8193036、rs3819024、rs2275913 和 rs7747909)进行基因分型,这些多态性覆盖了该基因的主要变异性。

结果

当单独分析每个 IL17A 遗传变异时,IgAV 患者与健康对照组之间没有统计学上的显著差异。同样,当评估符合单倍型的五个 IL17A 多态性时,IgAV 患者与健康对照组之间也没有发现统计学上的显著差异。此外,当根据疾病发病年龄或胃肠道或肾脏表现的存在/缺失对 IgAV 患者进行分层时,IL17A 的基因型、等位基因和单倍型频率也没有统计学上的显著差异。

结论

我们的结果不支持 IL17A 对 IgAV 发病机制的影响。

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