Association of a common interferon regulatory factor 5 (IRF5) variant with increased risk of systemic lupus erythematosus (SLE)

作者：Demirci F Y K; Manzi S; Ramsey Goldman R; Minster R L; Kenney M; Shaw P S; Dunlop Thomas C M; Kao A H; Rhew E; Bontempo F; Kammerer C; Kamboh M I^*

来源：Annals of Human Genetics, 2007, 71: 308-311.

DOI：10.1111/j.1469-1809.2006.00336.x

• interferon regulatory factor 5
• IRF5
• interferon
• lupus
• SLE

Interferon regulatory factor 5 (IRF5) belongs to a family of transcription factors that control the transactivation of type I interferon system-related genes, as well as the expression of several other genes involved in immune response, cell signalling, cell cycle control and apoptosis. Two recent studies reported a significant association between the IRF5/rs2004640 T allele and systemic lupus erythematosus (SLE). The purpose of this study was to determine whether the reported rs2004640 T allele association could be replicated in our independent SLE case-control sample. We genotyped DNA samples from 370 white SLE-affected female subjects and 462 white healthy female controls using the TaqMan Assay-on-Demand for rs2004640, and performed a case-control genetic association analysis. Frequency of the rs2004640 T allele was significantly higher in cases than in controls (56.5% vs. 50%; P = 0.008). The odds ratio for T allele carriers was 1.68 (95% CI: 1.20 - 2.34; P = 0.003). Our results in an independent case-control sample confirm the robust association of the IRF5/rs2004640 T allele with SLE risk, and further support the relevance of the type I interferon system in the pathogenesis of SLE and autoimmunity.

• 出版日期2007-5
• 单位西北大学