The Role of Genetic Variation Near Interferon-kappa inSystemic Lupus Erythematosus

[摘要] 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 theIFNKlocus in SLE susceptibility.We studiedIFNKsingle 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.IFNKSNPs were associated with increased serum type I IFN in EA and AA SLE patients.Our data suggest a sex-dependent association betweenIFNKSNPs and SLE and skin phenotypes.The serum IFN association suggests thatIFNKvariants could influence type I IFN producing plasmacytoid dendritic cells in affected skin.

[学科分类] 基础医学