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Published in:

01-12-2011

Association of IRF5 Polymorphisms with Susceptibility to Hemophagocytic Lymphohistiocytosis in Children

Authors: Masakatsu Yanagimachi, Hiroaki Goto, Takako Miyamae, Keisuke Kadota, Tomoyuki Imagawa, Masaaki Mori, Hidenori Sato, Ryu Yanagisawa, Tetsuji Kaneko, Satoshi Morita, Eiichi Ishii, Shumpei Yokota

Published in: Journal of Clinical Immunology | Issue 6/2011

Abstract

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.

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Title: Association of IRF5 Polymorphisms with Susceptibility to Hemophagocytic Lymphohistiocytosis in Children
Authors: Masakatsu Yanagimachi
Hiroaki Goto
Takako Miyamae
Keisuke Kadota
Tomoyuki Imagawa
Masaaki Mori
Hidenori Sato
Ryu Yanagisawa
Tetsuji Kaneko
Satoshi Morita
Eiichi Ishii
Shumpei Yokota
Publication date: 01-12-2011
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 6/2011
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-011-9583-x

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Association of IRF5 Polymorphisms with Susceptibility to Hemophagocytic Lymphohistiocytosis in Children

Abstract

Introduction

Methods

Results

Conclusions

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Abstract

Introduction

Methods

Results

Conclusions

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