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The Role of Genetic...
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Harley, Isaac T. W.
(author)
The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus
- Article/chapterEnglish2010
Publisher, publication year, extent ...
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Hindawi Limited,2010
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-134973
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-134973URI
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https://doi.org/10.1155/2010/706825DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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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Niewold, Timothy B.
(author)
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Stormont, Rebecca M.
(author)
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Kaufman, Kenneth M.
(author)
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Glenn, Stuart B.
(author)
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Franek, Beverly S.
(author)
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Kelly, Jennifer A.
(author)
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Kilpatrick, Jeffrey R.
(author)
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Hutchings, David
(author)
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Divers, Jasmin
(author)
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Bruner, Gail R.
(author)
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Edberg, Jeffrey C.
(author)
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McGwin, Gerald, Jr.
(author)
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Petri, Michelle A.
(author)
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Ramsey-Goldman, Rosalind
(author)
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Reveille, John D.
(author)
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Vila-Perez, Luis M.
(author)
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Merrill, Joan T.
(author)
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Gilkeson, Gary S.
(author)
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Vyse, Timothy J.
(author)
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Alarcón-Riquelme, Marta E.Uppsala universitet,Institutionen för genetik och patologi(Swepub:uu)martaala
(author)
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Cho, Soo-Kyung
(author)
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Jacob, Chaim O.
(author)
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Alarcon, Graciela S.
(author)
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Moser, Kathy L.
(author)
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Gaffney, Patrick M.
(author)
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Kimberly, Robert P.
(author)
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Bae, Sang-Cheol
(author)
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Langefeld, Carl D.
(author)
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Harley, John B.
(author)
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Guthridge, Joel M.
(author)
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James, Judith A.
(author)
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Uppsala universitetInstitutionen för genetik och patologi
(creator_code:org_t)
Related titles
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In:Journal of Biomedicine and Biotechnology: Hindawi Limited, s. 706825-1110-72431110-7251
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Harley, Isaac T. ...
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Niewold, Timothy ...
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Stormont, Rebecc ...
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Kaufman, Kenneth ...
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Glenn, Stuart B.
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Franek, Beverly ...
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Kelly, Jennifer ...
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Kilpatrick, Jeff ...
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Hutchings, David
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Divers, Jasmin
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Bruner, Gail R.
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Edberg, Jeffrey ...
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McGwin, Gerald, ...
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Petri, Michelle ...
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Ramsey-Goldman, ...
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Reveille, John D ...
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Vila-Perez, Luis ...
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Merrill, Joan T.
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Gilkeson, Gary S ...
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Vyse, Timothy J.
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Alarcón-Riquelme ...
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Cho, Soo-Kyung
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Jacob, Chaim O.
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Alarcon, Graciel ...
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Moser, Kathy L.
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Gaffney, Patrick ...
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Kimberly, Robert ...
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Bae, Sang-Cheol
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Langefeld, Carl ...
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Harley, John B.
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Guthridge, Joel ...
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James, Judith A.
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