Search: (WFRF:(Harley John B.)) pers:(Tsao Betty P.)
> (2011) >
Association of a fu...
Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
- Article/chapterEnglish2011
Publisher, publication year, extent ...
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2011-02-20
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Springer Science and Business Media LLC,2011
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-148999
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-148999URI
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https://doi.org/10.1038/ng.766DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:122034688URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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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, MIM152700) is an autoimmune disease characterized by self-reactive antibodies resulting in systemic inflammation and organ failure. TNFAIP3, encoding the ubiquitin-modifying enzyme A20, is an established susceptibility locus for SLE. By fine mapping and genomic re-sequencing in ethnically diverse populations, we fully characterized the TNFAIP3 risk haplotype and identified a TT>A polymorphic dinucleotide (deletion T followed by a T to A transversion) associated with SLE in subjects of European (P = 1.58 x 10(-8), odds ratio = 1.70) and Korean (P = 8.33 x 10(-10), odds ratio = 2.54) ancestry. This variant, located in a region of high conservation and regulatory potential, bound a nuclear protein complex composed of NF-kappa B subunits with reduced avidity. Further, compared with the non-risk haplotype, the haplotype carrying this variant resulted in reduced TNFAIP3 mRNA and A20 protein expression. These results establish this TT>A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Wen, Feng
(author)
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Templeton, Amanda
(author)
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Wiley, Graham
(author)
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King, Jarrod B.
(author)
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Lessard, Christopher J.
(author)
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Bates, Jared S.
(author)
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Hu, Yanqing
(author)
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Kelly, Jennifer A.
(author)
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Kaufman, Kenneth M.
(author)
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Guthridge, Joel M.
(author)
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Alarcon-Riquelme, Marta E.
(author)
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Anaya, Juan-Manuel
(author)
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Bae, Sang-Cheol
(author)
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Bang, So-Young
(author)
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Boackle, Susan A.
(author)
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Brown, Elizabeth E.
(author)
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Petri, Michelle A.
(author)
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Gallant, CarolineUppsala universitet,Genomik,Forskargrupp Alarcon
(author)
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Ramsey-Goldman, Rosalind
(author)
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Reveille, John D.
(author)
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Vila, Luis M.
(author)
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Criswell, Lindsey A.
(author)
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Edberg, Jeffrey C.
(author)
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Freedman, Barry I.
(author)
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Gregersen, Peter K.
(author)
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Gilkeson, Gary S.
(author)
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Jacob, Chaim O.
(author)
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James, Judith A.
(author)
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Kamen, Diane L.
(author)
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Kimberly, Robert P.
(author)
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Martin, Javier
(author)
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Merrill, Joan T.
(author)
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Niewold, Timothy B.
(author)
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Park, So-Yeon
(author)
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Pons-Estel, Bernardo A.
(author)
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Scofield, R. Hal
(author)
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Stevens, Anne M.
(author)
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Tsao, Betty P.
(author)
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Vyse, Timothy J.
(author)
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Langefeld, Carl D.
(author)
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Harley, John B.
(author)
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Moser, Kathy L.
(author)
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Webb, Carol F.
(author)
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Humphrey, Mary Beth
(author)
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Montgomery, Courtney Gray
(author)
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Gaffney, Patrick M.
(author)
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Uppsala universitetGenomik
(creator_code:org_t)
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In:Nature Genetics: Springer Science and Business Media LLC43:3, s. 253-2581061-40361546-1718
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