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  • Hellquist, A (author)

Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus

  • Article/chapterEnglish2009

Publisher, publication year, extent ...

  • 2009-06-30
  • The Journal of Rheumatology,2009

Numbers

  • LIBRIS-ID:oai:prod.swepub.kib.ki.se:119253234
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:119253234URI
  • https://doi.org/10.3899/jrheum.081160DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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

Notes

  • Several candidate genes have been implicated in susceptibility for systemic lupus erythematosus (SLE), a complex autoimmune disease. The proposed genes include members of the type I interferon (IFN) pathway and genes involved in immunological defense functions. Our aim was to systematically replicate 6 such genes, TYK2, IRF5, CTLA4, PDCD1, FCGR2A, and NOD2.Methods.Single-nucleotide polymorphisms in TYK2, IRF5, CTLA4, PDCD1, FCGR2A, and NOD2 were genotyped in 277 SLE patients and 356 healthy controls from Finland, giving a power of 42%–70% for different genes at published allele frequencies.Results.Significant association was seen for rs2304256 (p = 0.0001) and rs12720270 (p = 0.0031) in TYK2 and rs10954213 (p = 0.0043) in IRF5 in our samples, but not for the other genes. We found evidence for genetic interaction (p = 0.014) between rs2304256 in TYK2 and rs10954213 in IRF5, both members of the type I IFN pathway, strengthening the role of the type I IFN pathway in the pathogenesis of SLE.Conclusion.The IFN pathway genes IRF5 and TYK2 may act epistatically in increasing risk for SLE, but our lack of replication does not exclude effects of the other genes studied.

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

  • Jarvinen, TM (author)
  • Koskenmies, S (author)
  • Zucchelli, MKarolinska Institutet (author)
  • Orsmark-Pietras, CKarolinska Institutet (author)
  • Berglind, L (author)
  • Panelius, J (author)
  • Hasan, T (author)
  • Julkunen, H (author)
  • D'Amato, MKarolinska Institutet (author)
  • Saarialho-Kere, U (author)
  • Kere, JKarolinska Institutet (author)
  • Karolinska Institutet (creator_code:org_t)

Related titles

  • In:The Journal of rheumatology: The Journal of Rheumatology36:8, s. 1631-16380315-162X1499-2752

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