作者: K Obara , M Tamari , T Hirota , A Matsuda , T Shirakawa
关键词: Candidate gene 、 Single-nucleotide polymorphism 、 Gene 、 Haplotype 、 Genetics 、 Genotyping 、 SNP 、 Polymerase chain reaction 、 IRF7 、 Medicine 、 Molecular 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 ...