Title
The role of genetic variation near interferon-kappa in systemic lupus erythematosus
Date Issued
13 August 2010
Access level
open access
Resource Type
journal article
Author(s)
Harley I.T.W.
Niewold T.B.
Stormont R.M.
Kaufman K.M.
Glenn S.B.
Franek B.S.
Kelly J.A.
Kilpatrick J.R.
Hutchings D.
Divers J.
Bruner G.R.
Edberg J.C.
McGwin G.
Petri M.A.
Ramsey-Goldman R.
Reveille J.D.
Vilá-Pérez L.M.
Merrill J.T.
Gilkeson G.S.
Vyse T.J.
Alarcón-Riquelme M.E.
Cho S.K.
Jacob C.O.
Moser K.L.
Gaffney P.M.
Kimberly R.P.
Bae S.C.
Langefeld C.D.
Harley J.B.
Guthridge J.M.
James J.A.
University of Alabama, Birmingham
Publisher(s)
Hindawi
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. Copyright 2010 Isaac T. W. Harley et al.
Volume
2010
Language
English
OCDE Knowledge area
Reumatología
Inmunología
Scopus EID
2-s2.0-77955377623
PubMed ID
Source
Journal of Biomedicine and Biotechnology
ISSN of the container
11107251
Sources of information:
Directorio de Producción Científica
Scopus