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The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus
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2010 (English)In: Journal of Biomedicine and Biotechnology, ISSN 1110-7243, E-ISSN 1110-7251, 706825- p.Article in journal (Refereed) Published
Abstract [en]

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 x 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.

Place, publisher, year, edition, pages
2010. 706825- p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-134973DOI: 10.1155/2010/706825ISI: 000280882900001OAI: oai:DiVA.org:uu-134973DiVA: diva2:375034
Available from: 2010-12-07 Created: 2010-12-03 Last updated: 2010-12-07Bibliographically approved

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