Journal of clinical immunology · 2011
Association of IRF5 polymorphisms with susceptibility to hemophagocytic lymphohistiocytosis in children.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Yanagimachi Masakatsu, Goto Hiroaki, Miyamae Takako, Kadota Keisuke, Imagawa Tomoyuki, Mori Masaaki, Sato Hidenori, Yanagisawa Ryu, Kaneko Tetsuji, Morita Satoshi, Ishii Eiichi, Yokota Shumpei
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentArthritis, JuvenileChildChild, PreschoolCytokinesDNA Mutational AnalysisDisease ProgressionFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansInfantInflammation MediatorsInterferon Regulatory FactorsLymphohistiocytosis, HemophagocyticMacrophage ActivationMalePolymorphism, GeneticTranscriptional Activation