Institute of Dermatology and Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Meishan Road, 230032, Hefei, Anhui, China.
Rheumatol Int. 2011 Jun;31(6):819-22. doi: 10.1007/s00296-010-1576-1. Epub 2010 Aug 1.
Systemic lupus erythematosus (SLE) is a multi-system autoimmune disease with complex genetic inheritance. IKZF1 was established as a new susceptibility gene for SLE in a recent genome-wide association study (GWAS) in Chinese Han population. In order to examine whether expression levels of IKZF1 contribute to the pathogenesis of SLE, we estimated IKZF1 mRNA expression levels in peripheral blood mononuclear cells (PBMCs) via fluorescent quantitative reverse transcription polymerase chain reaction (RT-PCR) in 60 patients with SLE and 60 controls. We also explored whether the IKZF1 mRNA expression levels are associated with the variant of the SNP rs4917014 and the SLE Disease Activity Index (SLEDAI). The expression levels of IKZF1 mRNA in patients with SLE were significantly decreased compared with those in healthy controls (P<0.001). No significant differences were found between IKZF1 mRNA expression levels and SLEDAI scores, SNP rs4917014. Our results suggest that decreased expression of IKZF1 mRNA may be correlated with the pathogenesis of SLE.
系统性红斑狼疮（SLE）是一种多系统自身免疫性疾病，具有复杂的遗传易感性。最近在中国汉族人群的全基因组关联研究（GWAS）中，IKZF1 被确定为 SLE 的一个新的易感基因。为了研究 IKZF1 的表达水平是否与 SLE 的发病机制有关，我们通过荧光定量逆转录聚合酶链反应（RT-PCR）检测了 60 例 SLE 患者和 60 例对照者外周血单个核细胞（PBMC）中的 IKZF1 mRNA 表达水平。我们还探讨了 IKZF1 mRNA 表达水平是否与 SNP rs4917014 及 SLE 疾病活动指数（SLEDAI）的变异有关。与健康对照组相比，SLE 患者的 IKZF1 mRNA 表达水平显著降低（P<0.001）。我们未发现 IKZF1 mRNA 表达水平与 SLEDAI 评分和 SNP rs4917014 之间存在显著差异。我们的研究结果提示 IKZF1 mRNA 表达水平降低可能与 SLE 的发病机制有关。
