Back to Search
Start Over
The role of genetic variation near interferon-kappa in systemic lupus erythematosus.
- Source :
-
Journal of biomedicine & biotechnology [J Biomed Biotechnol] 2010; Vol. 2010. Date of Electronic Publication: 2010 Jul 15. - Publication Year :
- 2010
-
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 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.
- Subjects :
- Case-Control Studies
Chi-Square Distribution
Female
Genetic Predisposition to Disease
Haplotypes
Humans
Linkage Disequilibrium
Lupus Erythematosus, Systemic blood
Male
Phenotype
Polymorphism, Single Nucleotide
Sex Factors
Skin Physiological Phenomena
Statistics, Nonparametric
Interferon Type I genetics
Lupus Erythematosus, Systemic genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1110-7251
- Volume :
- 2010
- Database :
- MEDLINE
- Journal :
- Journal of biomedicine & biotechnology
- Publication Type :
- Academic Journal
- Accession number :
- 20706608
- Full Text :
- https://doi.org/10.1155/2010/706825