Interferon regulatory factor-5 is genetically associated with systemic lupus erythematosus in African Americans

J. A. Kelly, J. M. Kelley, K. M. Kaufman, J. Kilpatrick, G. R. Bruner, J. T. Merrill, J. A. James, S. G. Frank, E. Reams, E. E. Brown, A. W. Gibson, M. C. Marion, C. D. Langefeld, Q. Z. Li, D. R. Karp, E. K. Wakeland, M. Petri, R. Ramsey-Goldman, J. D. Reveille, L. M. ViláG. S. Alarcón, R. P. Kimberly, J. B. Harley*, J. C. Edberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

83 Scopus citations


Increased expression of interferon (IFN)-inducible genes is implicated in the pathogenesis of systemic lupus erythematosus (SLE). One transcription factor responsible for regulating IFN, interferon regulatory factor-5 (IRF5), has been associated with SLE in genetic studies of Asian, Caucasian and Hispanic populations. We genotyped up to seven polymorphic loci in or near IRF5 in a total of 4870 African-American and Caucasian subjects (1829 SLE sporadic cases and 3041 controls) from two independent studies. Population-based case-control comparisons were performed using the Pearson's χ2-test statistics and haplotypes were inferred using HaploView. We observed significant novel associations with the IRF5 variants rs2004640 and rs3807306 in African Americans and replicated previously reported associations in Caucasians. While we identified risk haplotypes, the majority of haplotypic effects were accounted for by one SNP (rs3807306) in conditional analyses. We conclude that genetic variants of IRF5 associate with SLE in multiple populations, providing evidence that IRF5 is likely to be a crucial component in SLE pathogenesis among multiple ethnic groups.

Original languageEnglish (US)
Pages (from-to)187-194
Number of pages8
JournalGenes and Immunity
Issue number3
StatePublished - Apr 2008

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Immunology


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