Systemic lupus erythematosus (SLE) is a protypical autoimmune disease and genetic factors play important roles in its pathogenesis. Since present SLE susceptibility loci are mainly studied through meta-analysis of genome-wide association study, we performed promoter activity analysis to examine the biological functions of SLE-associated single-nucleotide polymorphisms (SNPs). We found at SNP positions rs1341239, rs1800795, rs1800796, rs1800872, rs1800871, rs187238, rs360719, rs8178822, rs3761549, different alleles influenced respective promoter activities in different manners, and the effects also appeared under glucocorticoid treatment. In addition, some SNPs showed strong correlations with levels of respective serum factors, but in most cases the associations were only demonstrated in SLE individuals. Our study has further disclose the functional roles of SLE-associate SNPs in SLE pathogenesis.

中文翻译：

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单核苷酸多态性影响系统性红斑狼疮相关基因的启动子活性

系统性红斑狼疮（SLE）是一种典型的自身免疫性疾病，遗传因素在其发病机制中起重要作用。由于目前的 SLE 易感位点主要通过全基因组关联研究的荟萃分析进行研究，我们进行了启动子活性分析以检查 SLE 相关单核苷酸多态性 (SNP) 的生物学功能。我们发现在 SNP 位点 rs1341239、rs1800795、rs1800796、rs1800872、rs1800871、rs187238、rs360719、rs8178822、rs3761549 下也出现了不同的启动子作用，在不同的处理下也影响了不同的启动子活性。此外，一些 SNP 显示出与各自血清因子水平的强相关性，但在大多数情况下，这种关联仅在 SLE 个体中得到证实。