Department of General Practice, Pingshan District People's Hospital, Shenzhen, 518118, Guangdong, China.
Department of Dermatology, Second Affiliated Hospital of Wannan Medical College, Wuhu, 241000, Anhui, China.
Biotechnol Lett. 2020 Oct;42(10):1887-1896. doi: 10.1007/s10529-020-02916-y. Epub 2020 May 25.
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.
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着重要作用。由于目前的 SLE 易感基因座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，以研究与 SLE 相关的单核苷酸多态性（SNP）的生物学功能。我们发现 SNP 位置 rs1341239、rs1800795、rs1800796、rs1800872、rs1800871、rs187238、rs360719、rs8178822、rs3761549 的不同等位基因以不同的方式影响各自的启动子活性，并且这种影响在糖皮质激素治疗下也存在。此外，一些 SNP 与各自的血清因子水平表现出很强的相关性，但在大多数情况下，这些关联仅在 SLE 个体中表现出来。我们的研究进一步揭示了 SLE 相关 SNP 在 SLE 发病机制中的功能作用。
