The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus. (15th July 2010)

• Record Type: Journal Article
• Authors: Harley, Isaac T. W.; Niewold, Timothy B.; Stormont, Rebecca M.; Kaufman, Kenneth M.; Glenn, Stuart B.; Franek, Beverly S.; Kelly, Jennifer A.; Kilpatrick, Jeffrey R.; Hutchings, David; Divers, Jasmin; Bruner, Gail R.; Edberg, Jeffrey C.; McGwin, Gerald; Petri, Michelle A.; Ramsey-Goldman, Rosalind; Reveille, John D.; Vilá-Pérez, Luis M.; Merrill, Joan T.; Gilkeson, Gary S.; Vyse, Timothy J.; Alarcón-Riquelme, Marta E.; Cho, Soo-Kyung; Jacob, Chaim O.; Alarcón, Graciela S.; Moser, Kathy L.; Gaffney, Patrick M.; Kimberly, Robert P.; Bae, Sang-Cheol; Langefeld, Carl D.; Harley, John B.; Guthridge, Joel M.; James, Judith A.;
• Other Names: Via Charles Academic Editor.
• Is Part Of: Journal of biomedicine and biotechnology. Volume 2010(2010)
• Publication Date: 2010-07-15
• Subjects: Medicine -- Periodicals; Biology -- Periodicals; Biotechnology -- Periodicals; Medicine; Biology; Biotechnology; Médecine; Biologie; Biotechnologie; Biology; Biotechnology; Medicine; Biotechnology; Biomedicine; Electronic journals; Periodical; Periodicals; Electronic journals; 610
• DOI: 10.1155/2010/706825
• Languages: English
• ISSNs: 1110-7243

Abstract

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.