Interferon-γ polymorphisms in systemic lupus erythematosus

J. Y. Lee, D. Goldman, L. M. Piliero, M. Petri, K. E. Sullivan

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


Interferon-γ is a cytokine which is believed to play a role in both the susceptibility and pathogenesis of lupus. To determine whether genetic variants might influence the development of this polygenic autoimmune disease, we analyzed the gene frequency of eight different alleles in controls and patients with SLE. Ninety-nine controls and 136 patients with systemic lupus erythematosus were genotyped for a CA repeat in the first intron of the interferon-γ gene. There were no statistically significant differences in the allele frequencies between patients and controls suggesting that these polymorphic variants do not influence susceptibility. We then examined whether any of these alleles were associated with specific clinical manifestations. Allele 1 was associated with gastrointestinal lupus while allele 6 was associated with more severe lupus. Allele 2 appeared to be protective for arthritis. This suggests that genetic variation in interferon-γ expression might influence the disease course.

Original languageEnglish (US)
Pages (from-to)254-257
Number of pages4
JournalGenes and immunity
Issue number5
StatePublished - Aug 2001


  • Gastrointestinal lupus
  • Interferon-γ
  • Polymorphisms
  • Systematic lupus erythematosus

ASJC Scopus subject areas

  • Immunology
  • Genetics
  • Genetics(clinical)


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