Promoter polymorphisms in the IRF3 gene confer protection against systemic lupus erythematosus.

作者: K Obara , M Tamari , T Hirota , A Matsuda , T Shirakawa

DOI: 10.1177/0961203308089340

关键词: Candidate geneSingle-nucleotide polymorphismGeneHaplotypeGeneticsGenotypingSNPPolymerase chain reactionIRF7MedicineMolecular biology

摘要: In order to identify a novel candidate gene in systemic lupus erythematosus (SLE), we analysed panel of six genes encoding molecules involved the type I interferon (IFN) system. We first identified variants five related IFN pathway by sequencing. Genotyping eight selected single-nucleotide polymorphisms (SNPs) (TLR9, MYD88, IRF3, IRF7, IFNB1, IFNA17) was performed 137 patients with SLE and matched 152 healthy controls using polymerase chain reaction-restriction fragment length polymorphism analysis. functional assay, quantitative real-time reaction assess constitutive IRF3 mRNA expression peripheral blood mononuclear cells from subjects different promoter haplotypes. Among SNPs genotyped, an SNP at –925 found be associated after correction for multiple tests (corrected P = 0.016). Of total –925A/G ...

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