Association of IRF5 Polymorphisms with Susceptibility to Hemophagocytic Lymphohistiocytosis in Children
Association of IRF5 Polymorphisms with Susceptibility to Hemophagocytic Lymphohistiocytosis in Children
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DOI：
10.1007/s10875-011-9583-x
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发表时间：
2011-09
影响因子：
9.1
通讯作者：
M. Yanagimachi;H. Goto;T. Miyamae;Keisuke Kadota;T. Imagawa;M. Mori;Hidenori Sato;R. Yanagisawa;T. Kaneko;S. Morita;E. Ishii;S. Yokota
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文献类型：
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作者：
M. Yanagimachi;H. Goto;T. Miyamae;Keisuke Kadota;T. Imagawa;M. Mori;Hidenori Sato;R. Yanagisawa;T. Kaneko;S. Morita;E. Ishii;S. Yokota
简介噬血细胞性淋巴组织细胞增多症 (HLH) 是一种过度炎症综合征，具有多种遗传背景。据报道，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相关。 IRF5 在促炎细胞因子的激活中充当主转录因子。我们评估了 IRF5 基因多态性与继发性 HLH 易感性的关联。方法使用 TaqMan 检测对 82 名继发性 HLH 患者和 188 名对照受试者的三个 IRF5 单核苷酸多态性（rs729302、rs2004640 和 rs2280714）进行基因分型。 rs2004640 处的 GT/TT 基因型具有继发性 HLH 易感性 (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）。结论这些研究结果表明IRF5是影响继发性HLH易感性的遗传因素，并且IRF5相关的免疫反应有助于HLH的发病机制。
IntroductionHemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory syndrome and has a varied genetic background. The polymorphism ofinterferon regulatory factor 5gene (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 ofIRF5gene polymorphisms with susceptibility to secondary HLH.MethodsThreeIRF5single nucleotide polymorphisms (rs729302, rs2004640, and rs2280714) were genotyped using TaqMan assays in 82 secondary HLH patients and 188 control subjects.ResultsThere was a significant association of the GT/TT genotype at rs2004640 with secondary HLH susceptibility (p< 0.01). TheIRF5haplotype (rs729302 A, rs2004640 T, and rs2280714 T) was associated with secondary HLH susceptibility (p< 0.01).ConclusionsThese findings indicate thatIRF5is a genetic factor influencing the susceptibility to secondary HLH and that the IRF5-associated immune response contributes to the pathogenesis of HLH.