SwePub
Sök i LIBRIS databas

  Extended search

WFRF:(Ramsey Goldman Rosalind)
 

Search: WFRF:(Ramsey Goldman Rosalind) > (2010-2014) > Association of a fu...

  • Adrianto, Indra (author)

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

  • Article/chapterEnglish2011

Publisher, publication year, extent ...

  • 2011-02-20
  • Springer Science and Business Media LLC,2011
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-148999
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-148999URI
  • https://doi.org/10.1038/ng.766DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:122034688URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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

  • MEDICINE
  • MEDICIN

Added entries (persons, corporate bodies, meetings, titles ...)

  • Wen, Feng (author)
  • Templeton, Amanda (author)
  • Wiley, Graham (author)
  • King, Jarrod B. (author)
  • Lessard, Christopher J. (author)
  • Bates, Jared S. (author)
  • Hu, Yanqing (author)
  • Kelly, Jennifer A. (author)
  • Kaufman, Kenneth M. (author)
  • Guthridge, Joel M. (author)
  • Alarcon-Riquelme, Marta E. (author)
  • Anaya, Juan-Manuel (author)
  • Bae, Sang-Cheol (author)
  • Bang, So-Young (author)
  • Boackle, Susan A. (author)
  • Brown, Elizabeth E. (author)
  • Petri, Michelle A. (author)
  • Gallant, CarolineUppsala universitet,Genomik,Forskargrupp Alarcon (author)
  • Ramsey-Goldman, Rosalind (author)
  • Reveille, John D. (author)
  • Vila, Luis M. (author)
  • Criswell, Lindsey A. (author)
  • Edberg, Jeffrey C. (author)
  • Freedman, Barry I. (author)
  • Gregersen, Peter K. (author)
  • Gilkeson, Gary S. (author)
  • Jacob, Chaim O. (author)
  • James, Judith A. (author)
  • Kamen, Diane L. (author)
  • Kimberly, Robert P. (author)
  • Martin, Javier (author)
  • Merrill, Joan T. (author)
  • Niewold, Timothy B. (author)
  • Park, So-Yeon (author)
  • Pons-Estel, Bernardo A. (author)
  • Scofield, R. Hal (author)
  • Stevens, Anne M. (author)
  • Tsao, Betty P. (author)
  • Vyse, Timothy J. (author)
  • Langefeld, Carl D. (author)
  • Harley, John B. (author)
  • Moser, Kathy L. (author)
  • Webb, Carol F. (author)
  • Humphrey, Mary Beth (author)
  • Montgomery, Courtney Gray (author)
  • Gaffney, Patrick M. (author)
  • Uppsala universitetGenomik (creator_code:org_t)

Related titles

  • In:Nature Genetics: Springer Science and Business Media LLC43:3, s. 253-2581061-40361546-1718

Internet link

Find in a library

To the university's database

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view