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The role of genetic variation near interferon-kappa in systemic lupus erythematosus.


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.

SUBMITTER: Harley IT 

PROVIDER: S-EPMC2914299 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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The role of genetic variation near interferon-kappa in systemic lupus erythematosus.

Harley Isaac T W IT   Niewold Timothy B TB   Stormont Rebecca M RM   Kaufman Kenneth M KM   Glenn Stuart B SB   Franek Beverly S BS   Kelly Jennifer A JA   Kilpatrick Jeffrey R JR   Hutchings David D   Divers Jasmin J   Bruner Gail R GR   Edberg Jeffrey C JC   McGwin Gerald G   Petri Michelle A MA   Ramsey-Goldman Rosalind R   Reveille John D JD   Vilá-Pérez Luis M LM   Merrill Joan T JT   Gilkeson Gary S GS   Vyse Timothy J TJ   Alarcón-Riquelme Marta E ME   Cho Soo-Kyung SK   Jacob Chaim O CO   Alarcón Graciela S GS   Moser Kathy L KL   Gaffney Patrick M PM   Kimberly Robert P RP   Bae Sang-Cheol SC   Langefeld Carl D CD   Harley John B JB   Guthridge Joel M JM   James Judith A JA  

Journal of biomedicine & biotechnology 20100715


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  ...[more]

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