The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus
Author(s) -
Isaac T. W. Harley,
Timothy B. Niewold,
Rebecca M. Stormont,
Kenneth M. Kaufman,
Stuart B. Glenn,
Beverly S. Franek,
Jennifer A. Kelly,
Jeffrey R. Kilpatrick,
David Hutchings,
Jasmin Divers,
Gail R. Bruner,
Jeffrey C. Edberg,
Gerald McGwin,
Michelle Petri,
Rosalind RamseyGoldman,
John D. Reveille,
Luis M. Vilá-Pérez,
Joan T. Merrill,
Gary S. Gilkeson,
Timothy J. Vyse,
Marta E. AlarcónRiquelme,
SooKyung Cho,
Chaim O. Jacob,
Graciela S. Alarcón,
Kathy L. Moser,
Patrick M. Gaffney,
Robert P. Kimberly,
SangCheol Bae,
Carl D. Langefeld,
John B. Harley,
Joel M. Guthridge,
Judith A. James
Publication year - 2010
Publication title -
journal of biomedicine and biotechnology
Language(s) - English
Resource type - Journals
eISSN - 1110-7251
pISSN - 1110-7243
DOI - 10.1155/2010/706825
Subject(s) - kappa , medicine , philosophy , linguistics
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.
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