In:
Journal of Biomedicine and Biotechnology, Hindawi Limited, Vol. 2010 ( 2010), p. 1-11
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.
Type of Medium:
Online Resource
ISSN:
1110-7243
,
1110-7251
Language:
English
Publisher:
Hindawi Limited
Publication Date:
2010
detail.hit.zdb_id:
2698540-8
detail.hit.zdb_id:
2512507-2
SSG:
12