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. 2013 Dec 1;8(6):10.2217/ijr.13.58.
doi: 10.2217/ijr.13.58.

Genetics of the type I interferon pathway in systemic lupus erythematosus

Yogita Ghodke-Puranik  1 , Timothy B Niewold  1
Affiliations

Genetics of the type I interferon pathway in systemic lupus erythematosus

Yogita Ghodke-Puranik et al. Int J Clin Rheumtol. .

Abstract

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.

Keywords: autoantibodies; autoimmune diseases; genetics; interferon; systemic lupus erythematosus.

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References

    1. Lopez P, Mozo L, Gutierrez C, Suarez A. Epidemiology of systemic lupus erythematosus in a northern Spanish population: gender and age influence on immunological features. Lupus. 2003;12(11):860–865. - PubMed
    1. Weckerle CE, Niewold TB. The unexplained female predominance of systemic lupus erythematosus: clues from genetic and cytokine studies. Clin Rev Allergy Immunol. 2011;40(1):42–49. - PMC - PubMed
    1. von Muhlen CA, Tan EM. Autoantibodies in the diagnosis of systemic rheumatic diseases. Semin Arthritis Rheum. 1995;24(5):323–358. - PubMed
    1. Harley JB, Kelly JA, Kaufman KM. Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol. 2006;28(2):119–130. - PubMed
    1. Alarcon-Segovia D, Alarcon-Riquelme ME, Cardiel MH, et al. Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum. 2005;52(4):1138–1147. - PubMed

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