Genetics of the type I interferon pathway in systemic lupus erythematosus

Yogita Ghodke-Puranik, Timothy B. Niewold

Research output: Contribution to journalReview articlepeer-review

30 Scopus citations


Genetic studies of systemic lupus erythematosus (SLE) have been successful, identifying numerous risk factors for human disease. While the list is not yet complete, it is clear that important immune system pathways are represented, one of which being type I interferon (IFN). Circulating type I IFN levels are high in SLE patients and this IFN pathway activation is heritable in families with SLE. We summarize our current understanding of the genetics of the type I IFN pathway in SLE, with an emphasis on studies that demonstrate an impact of the SLE-risk alleles upon type I IFN pathway activation in SLE patients. These studies illustrate that variations in type I IFN pathway genes represent a common genetic feature of SLE. By understanding the genetic regulation of type I IFN, we may be able to intervene in a more personalized fashion, based upon the molecular dysregulation present in a given individual.

Original languageEnglish (US)
Pages (from-to)657-669
Number of pages13
JournalInternational Journal of Clinical Rheumatology
Issue number6
StatePublished - Dec 2013


  • autoantibodies
  • autoimmune diseases
  • genetics
  • interferon
  • systemic lupus erythematosus

ASJC Scopus subject areas

  • Rheumatology


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