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Association of a fu...
Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
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Adrianto, Indra (author)
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Wen, Feng (author)
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Templeton, Amanda (author)
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show more...
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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, Caroline (author)
- Uppsala universitet,Genomik,Forskargrupp Alarcon
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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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(creator_code:org_t)
- 2011-02-20
- 2011
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:3, s. 253-258
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https://europepmc.or...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
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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.
Keyword
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Adrianto, Indra
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Wen, Feng
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Templeton, Amand ...
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Wiley, Graham
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King, Jarrod B.
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Lessard, Christo ...
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show more...
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Bates, Jared S.
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Hu, Yanqing
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Kelly, Jennifer ...
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Kaufman, Kenneth ...
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Guthridge, Joel ...
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Alarcon-Riquelme ...
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Anaya, Juan-Manu ...
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Bae, Sang-Cheol
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Bang, So-Young
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Boackle, Susan A ...
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Brown, Elizabeth ...
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Petri, Michelle ...
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Gallant, Carolin ...
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Ramsey-Goldman, ...
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Reveille, John D ...
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Vila, Luis M.
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Criswell, Lindse ...
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Edberg, Jeffrey ...
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Freedman, Barry ...
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Gregersen, Peter ...
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Gilkeson, Gary S ...
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Jacob, Chaim O.
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James, Judith A.
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Kamen, Diane L.
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Kimberly, Robert ...
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Martin, Javier
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Merrill, Joan T.
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Niewold, Timothy ...
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Park, So-Yeon
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Pons-Estel, Bern ...
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Scofield, R. Hal
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Stevens, Anne M.
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Tsao, Betty P.
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Vyse, Timothy J.
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Langefeld, Carl ...
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Harley, John B.
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Moser, Kathy L.
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Webb, Carol F.
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Humphrey, Mary B ...
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Montgomery, Cour ...
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Gaffney, Patrick ...
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show less...
- Articles in the publication
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Nature Genetics
- By the university
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Uppsala University
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Karolinska Institutet