IRF5 多态性与儿童噬血细胞性淋巴组织细胞增生症易感性的关联。
Association of IRF5 polymorphisms with susceptibility to hemophagocytic lymphohistiocytosis in children.
机构信息
Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
出版信息
J Clin Immunol. 2011 Dec;31(6):946-51. doi: 10.1007/s10875-011-9583-x. Epub 2011 Sep 4.
INTRODUCTION
Hemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome and has a varied genetic background. The polymorphism of interferon regulatory factor 5 gene (IRF5) was reported to be associated with susceptibility to macrophage activation syndrome. IRF5 acts as a master transcription factor in the activation of pro-inflammatory cytokines. We assessed associations of IRF5 gene polymorphisms with susceptibility to secondary HLH.
METHODS
Three IRF5 single nucleotide polymorphisms (rs729302, rs2004640, and rs2280714) were genotyped using TaqMan assays in 82 secondary HLH patients and 188 control subjects.
RESULTS
There was a significant association of the GT/TT genotype at rs2004640 with secondary HLH susceptibility (p < 0.01). The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T) was associated with secondary HLH susceptibility (p < 0.01).
CONCLUSIONS
These findings indicate that IRF5 is a genetic factor influencing the susceptibility to secondary HLH and that the IRF5-associated immune response contributes to the pathogenesis of HLH.
简介
噬血细胞性淋巴组织细胞增生症（HLH）是一种炎症反应亢进综合征，具有多种遗传背景。干扰素调节因子 5 基因（IRF5）的多态性与巨噬细胞活化综合征的易感性有关。IRF5 作为一种主转录因子，在促炎细胞因子的激活中发挥作用。我们评估了 IRF5 基因多态性与继发性 HLH 易感性的关联。
方法
采用 TaqMan 检测法对 82 例继发性 HLH 患者和 188 例对照者的 IRF5 三个单核苷酸多态性（rs729302、rs2004640 和 rs2280714）进行基因分型。
结果
rs2004640 的 GT/TT 基因型与继发性 HLH 易感性显著相关（p<0.01）。IRF5 单倍型（rs729302 A、rs2004640 T 和 rs2280714 T）与继发性 HLH 易感性相关（p<0.01）。
结论
这些发现表明，IRF5 是影响继发性 HLH 易感性的遗传因素，IRF5 相关的免疫反应有助于 HLH 的发病机制。
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