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Background Systemic lupus erythematosus (SLE) is a diverse clinical manifestations, can affect multiple systems autoimmune diseases. SLE pathogenesis is not yet clear, is a polygenic disease, is currently believed that genetic, immune, viral infections, drugs and hormones and other factors, including genetic factors in the pathogenesis of SLE play an important role. Over the past two decades, the research team mainly through genome-wide scan and candidate gene approach studies of SLE susceptibility genes, but most of the results are not consistent. Online Mendelian Inheritance in Man (OMIM) database included 13 SLE susceptibility loci in 11 by linkage analysis and genome-wide scan identified, namely 1q41-42 (SLEB1), 2q37.3 (SLEB2), 4p16-15.2 (SLEB3), 12q24 (SLEB4), 13q32 (SLEB5), 16q11.2 (SLEB6), 20p12 (SLEB7), 20q13.1 (SLEB8), 1q32 (SLEB9), 7q32 (SLEB10), 2q32.2- q32.3 (SLEB11). By fine mapping and candidate gene approach found some possible associated with SLE susceptibility genes, such as PTPN22, CRP, FCGR2A, FCGR3A, FCGR2B, STAT4, IRF5, TLR5, ITGAM-ITGAX, FAS, PARP, PDCD1, HLA-DRB1 , C2, C4 and so on. In recent years, as the international monomer graphics program (HapMap) finish and cheap and efficient high-throughput genotyping technologies, genome-wide association analysis (GWAS) has become a complex disease susceptibility genes find the most effective method. Recently with GWAS in Han population studies have found nine new susceptibility genes and loci, including IKZF1 (SNP rs4917014 was significantly associated with SLE OR = 0.72, 95% CI: 0.68-0.77, P = 2.75 × 10-23 ). In the function of the transcription factor encoded Ikaros IKZF1 in lymphocytes occurrence, development, differentiation, proliferation plays an important role. Objective IKZF1 mRNA expression in SLE patients peripheral blood mononuclear cells (PBMCs) expression is abnormal, the mRNA expression and SLE disease activity index (SLEDAI) and rs4917014 is associated with IKZF1 mRNA expression between. Method using real-time quantitative PCR in 60 cases of SLE patients and 60 normal controls were detected in peripheral blood mononuclear cells IKZF1 mRNA expression levels; application Sequenom MassArray technique in 60 patients with SLE IKZF1 genes rs4917014 locus genotyping with SPSS10.0 statistical software for data analysis. Results SLE patients IKZF1mRNA peripheral blood mononuclear cells was significantly lower than the control group (P lt; 0.01); IKZF1mRNA expression and SLEDAI and rs491701 no correlation. Conclusion IKZF1 gene may be associated with the pathogenesis of SLE.
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