Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 75185, Uppsala, Sweden.
J Rheumatol. 2010 Mar;37(3):574-8. doi: 10.3899/jrheum.090440. Epub 2010 Jan 15.
We examined the genetic association of the promoter insertion/deletion (indel) in IRF5 gene with systemic lupus erythematosus (SLE) in distinct populations and assessed its role in gene expression.
Four IRF5 polymorphisms were genotyped in 1488 SLE patients and 1466 controls. Gene expression was analyzed by quantitative real-time PCR using RNA from peripheral blood mononuclear cells (PBMC).
The promoter indel and rs2070197 had independent genetic effects, which accounted for the association of rs2004640 and rs10954213. Gene expression analysis revealed that rs10954213 exerted the greatest influence on IRF5 transcript levels.
We corroborated the association of the promoter indel with SLE in 5 different populations and revealed that rs10954213 is the main single-nucleotide polymorphism responsible for altered IRF5 expression in PBMC.
我们在不同人群中研究了 IRF5 基因启动子插入/缺失（indel）与系统性红斑狼疮（SLE）的遗传关联，并评估了其在基因表达中的作用。
在 1488 例 SLE 患者和 1466 例对照中，对 4 个 IRF5 多态性进行了基因分型。使用来自外周血单核细胞（PBMC）的 RNA 通过实时定量 PCR 进行基因表达分析。
启动子 indel 和 rs2070197 具有独立的遗传效应，这解释了 rs2004640 和 rs10954213 的关联。基因表达分析表明，rs10954213 对 IRF5 转录本水平的影响最大。
我们在 5 个不同的人群中证实了启动子 indel 与 SLE 的关联，并揭示了 rs10954213 是导致 PBMC 中 IRF5 表达改变的主要单核苷酸多态性。
