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  • Graham, R. Robert (author)

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

  • Article/chapterEnglish2007

Publisher, publication year, extent ...

  • 2007-04-17
  • Proceedings of the National Academy of Sciences,2007
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-11871
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-11871URI
  • https://doi.org/10.1073/pnas.0701266104DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:1938199URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

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

Notes

  • Systematic genome-wide studies to map genomic regions associated with human diseases are becoming more practical. Increasingly, efforts will be focused on the identification of the specific functional variants responsible for the disease. The challenges of identifying causal variants include the need for complete ascertainment of genetic variants and the need to consider the possibility of multiple causal alleles. We recently reported that risk of systemic lupus erythematosus (SLE) is strongly associated with a common SNP in IFN regulatory factor 5 (IRF5), and that this variant altered spicing in a way that might provide a functional explanation for the reproducible association to SLE risk. Here, by resequencing and genotyping in patients with SLE, we find evidence for three functional alleles of IRF5: the previously described exon 1B splice site variant, a 30-bp in-frame insertion/deletion variant of exon 6 that alters a proline-, glutamic acid-, serine- and threonine-rich domain region, and a variant in a conserved polyA+ signal sequence that alters the length of the 3' UTR and stability of IRF5 mRNAs. Haplotypes of these three variants define at least three distinct levels of risk to SLE. Understanding how combinations of variants influence IRF5 function may offer etiological and therapeutic insights in SLE; more generally, IRF5 and SLE illustrates how multiple common variants of the same gene can together influence risk of common disease.

Subject headings and genre

  • interferon pathway
  • systemic lupus erythematosus
  • MEDICINE
  • MEDICIN

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

  • Kyogoku, Chieko (author)
  • Sigurdsson, SnaevarUppsala universitet,Molekylär medicin (author)
  • Vlasova, Irina A. (author)
  • Davies, Leela R.L. (author)
  • Baechler, Emily C. (author)
  • Plenge, Robert M. (author)
  • Koeuth, Thearith (author)
  • Ortmann, Ward A. (author)
  • Hom, Geoffrey (author)
  • Bauer, Jason W. (author)
  • Gillett, Clarence (author)
  • Burtt, Noel (author)
  • Cunninghame Graham, Deborah S. (author)
  • Onofrio, Robert (author)
  • Petri, Michelle (author)
  • Gunnarsson, IvaKarolinska Institutet (author)
  • Svenungsson, ElisabethKarolinska Institutet (author)
  • Rönnblom, LarsUppsala universitet,Institutionen för medicinska vetenskaper,Section of Rheumatology(Swepub:uu)larsronn (author)
  • Nordmark, GunnelUppsala universitet,Institutionen för medicinska vetenskaper,Section of Rheumatology(Swepub:uu)gunnnord (author)
  • Gregersen, Peter K. (author)
  • Moser, Kathy (author)
  • Gaffney, Patrick M. (author)
  • Criswell, Lindsey A. (author)
  • Vyse, Timothy J. (author)
  • Syvänen, Ann-ChristineUppsala universitet,Molekylär medicin(Swepub:uu)anncsyva (author)
  • Altshuler, David M. (author)
  • Bohjanen, PR (author)
  • Daly, MJ (author)
  • Behrens, TW (author)
  • Uppsala universitetMolekylär medicin (creator_code:org_t)

Related titles

  • In:Proceedings of the National Academy of Sciences of the United States of America: Proceedings of the National Academy of Sciences104:16, s. 6758-67630027-84241091-6490

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