The role of genetic variation near interferon-kappa in systemic lupus erythematosus

Isaac T.W. Harley, Timothy B. Niewold, Rebecca M. Stormont, Kenneth M. Kaufman, Stuart B. Glenn, Beverly S. Franek, Jennifer A. Kelly, Jeffrey R. Kilpatrick, David Hutchings, Jasmin Divers, Gail R. Bruner, Jeffrey C. Edberg, Gerald McGwin, Michelle A. Petri, Rosalind Ramsey-Goldman, John D. Reveille, Luis M. Vilá-Pérez, Joan T. Merrill, Gary S. Gilkeson, Timothy J. VyseMarta E. Alarcón-Riquelme, Soo Kyung Cho, Chaim O. Jacob, Graciela S. Alarcón, Kathy L. Moser, Patrick M. Gaffney, Robert P. Kimberly, Sang Cheol Bae, Carl D. Langefeld, John B. Harley, Joel M. Guthridge, Judith A. James

Research output: Contribution to journalArticle

Abstract

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by increased type I interferons (IFNs) and multiorgan inflammation frequently targeting the skin. IFN-kappa is a type I IFN expressed in skin. A pooled genome-wide scan implicated the IFNK locus in SLE susceptibility. We studied IFNK single nucleotide polymorphisms (SNPs) in 3982 SLE cases and 4275 controls, composed of European (EA), African-American (AA), and Asian ancestry. rs12553951C was associated with SLE in EA males (odds ratio=1.93, P=2.5 10 -4), but not females. Suggestive associations with skin phenotypes in EA and AA females were found, and these were also sex-specific. IFNK SNPs were associated with increased serum type I IFN in EA and AA SLE patients. Our data suggest a sex-dependent association between IFNK SNPs and SLE and skin phenotypes. The serum IFN association suggests that IFNK variants could influence type I IFN producing plasmacytoid dendritic cells in affected skin.

Original languageEnglish (US)
Article number706825
JournalJournal of Biomedicine and Biotechnology
Volume2010
DOIs
StatePublished - 2010

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis

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    Harley, I. T. W., Niewold, T. B., Stormont, R. M., Kaufman, K. M., Glenn, S. B., Franek, B. S., Kelly, J. A., Kilpatrick, J. R., Hutchings, D., Divers, J., Bruner, G. R., Edberg, J. C., McGwin, G., Petri, M. A., Ramsey-Goldman, R., Reveille, J. D., Vilá-Pérez, L. M., Merrill, J. T., Gilkeson, G. S., ... James, J. A. (2010). The role of genetic variation near interferon-kappa in systemic lupus erythematosus. Journal of Biomedicine and Biotechnology, 2010, [706825]. https://doi.org/10.1155/2010/706825