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  • Kozyrev, Sergey V (author)

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

  • Article/chapterEnglish2008

Publisher, publication year, extent ...

  • 2008-01-20
  • Springer Science and Business Media LLC,2008

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:c3fc9ef9-bdf9-487b-b35d-f990af451a02
  • https://lup.lub.lu.se/record/1198907URI
  • https://doi.org/10.1038/ng.79DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:116529814URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-97762URI

Supplementary language notes

  • Language:English
  • Summary in:English

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

Notes

  • Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance(1-3). In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. We replicated the association in four independent case-control sets (combined P = 3.7 x 10(-10); OR = 1.38). We analyzed BANK1 cDNA and found two isoforms, one full-length and the other alternatively spliced and lacking exon 2 (Delta 2), encoding a protein without a putative IP3R-binding domain. The transcripts were differentially expressed depending on a branch point-site SNP, rs17266594, in strong linkage disequilibrium (LD) with rs10516487. A third associated variant was found in the ankyrin domain (rs3733197, A383T). Our findings implicate BANK1 as a susceptibility gene for SLE, with variants affecting regulatory sites and key functional domains. The disease-associated variants could contribute to sustained B cell-receptor signaling and B-cell hyperactivity characteristic of this disease.

Subject headings and genre

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

  • Abelson, Anna-KarinUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)anive102 (author)
  • Wojcik, Jerome (author)
  • Zaghlool, Ammar (author)
  • Reddy, M V Prasad Linga (author)
  • Sanchez, Elena (author)
  • Gunnarsson, IvaKarolinska Institutet (author)
  • Svenungsson, ElisabetKarolinska Institutet (author)
  • Sturfelt, GunnarLund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)reum-gst (author)
  • Jönsen, AndreasLund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)reum-ajo (author)
  • Truedsson, LennartLund University,Lunds universitet,Avdelningen för mikrobiologi, immunologi och glykobiologi - MIG,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Microbiology, Immunology and Glycobiology - MIG,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)mmb-ltr (author)
  • Pons-Estel, Bernardo A (author)
  • Witte, Torsten (author)
  • D'Alfonso, Sandra (author)
  • Barrizzone, Nadia (author)
  • Danieli, Maria Giovanna (author)
  • Gutierrez, Carmen (author)
  • Suarez, Ana (author)
  • Junker, Peter (author)
  • Laustrup, Helle (author)
  • Gonzalez-Escribano, Maria Francisca (author)
  • Martin, Javier (author)
  • Abderrahim, Hadi (author)
  • Alarcon-Riquelme, Marta E (author)
  • Uppsala universitetInstitutionen för genetik och patologi (creator_code:org_t)

Related titles

  • In:Nature Genetics: Springer Science and Business Media LLC40:2, s. 211-2161546-17181061-4036

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