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The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus
- Harley, Isaac T. W.;
- Niewold, Timothy B.;
- Stormont, Rebecca M.;
- Kaufman, Kenneth M.;
- Glenn, Stuart B.;
- ... Cho, Soo-Kyung;
- 외 26명
WEB OF SCIENCE
48SCOPUS
54초록
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.
키워드
- 제목
- The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus
- 저자
- Harley, Isaac T. W.; Niewold, Timothy B.; Stormont, Rebecca M.; Kaufman, Kenneth M.; Glenn, Stuart B.; Franek, Beverly S.; Kelly, Jennifer A.; Kilpatrick, Jeffrey R.; Hutchings, David; Divers, Jasmin; Bruner, Gail R.; Edberg, Jeffrey C.; McGwin, Gerald, Jr.; Petri, Michelle A.; Ramsey-Goldman, Rosalind; Reveille, John D.; Vila-Perez, Luis M.; Merrill, Joan T.; Gilkeson, Gary S.; Vyse, Timothy J.; Alarcon-Riquelme, Marta E.; Cho, Soo-Kyung; Jacob, Chaim O.; Alarcon, Graciela S.; Moser, Kathy L.; Gaffney, Patrick M.; Kimberly, Robert P.; Bae, Sang-Cheol; Langefeld, Carl D.; Harley, John B.; Guthridge, Joel M.; James, Judith A.
- 발행일
- 2010-09
- 유형
- Article
- 권
- 2010
- 페이지
- 1 ~ 11