Association of a Common Interferon Regulatory Factor 5 (IRF5) variant with increased risk of Systemic Lupus Erythematosus (SLE)

F. Y.K. Demirci, S. Manzi, Rosalind Ramsey-Goldman, R. L. Minster, M. Kenney, P. S. Shaw, C. M. Dunlop-Thomas, A. H. Kao, E. Rhew, F. Bontempo, C. Kammerer, M. Ilyas Kamboh*

*Corresponding author for this work

Research output: Contribution to journalArticle

68 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)308-311
Number of pages4
JournalAnnals of Human Genetics
Volume71
Issue number3
DOIs
StatePublished - May 1 2007

Keywords

  • IRF5
  • Interferon
  • Interferon regulatory factor 5
  • Lupus
  • SLE

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    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. (2007). Association of a Common Interferon Regulatory Factor 5 (IRF5) variant with increased risk of Systemic Lupus Erythematosus (SLE). Annals of Human Genetics, 71(3), 308-311. https://doi.org/10.1111/j.1469-1809.2006.00336.x