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Functional variants...
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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 ...
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2008-01-20
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Springer Science and Business Media LLC,2008
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:c3fc9ef9-bdf9-487b-b35d-f990af451a02
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https://lup.lub.lu.se/record/1198907URI
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https://doi.org/10.1038/ng.79DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:116529814URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-97762URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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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 ...)
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Abelson, Anna-KarinUppsala universitet,Institutionen för genetik och patologi(Swepub:uu)anive102
(author)
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Wojcik, Jerome
(author)
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Zaghlool, Ammar
(author)
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Reddy, M V Prasad Linga
(author)
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Sanchez, Elena
(author)
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Gunnarsson, IvaKarolinska Institutet
(author)
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Svenungsson, ElisabetKarolinska Institutet
(author)
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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)
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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)
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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)
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Pons-Estel, Bernardo A
(author)
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Witte, Torsten
(author)
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D'Alfonso, Sandra
(author)
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Barrizzone, Nadia
(author)
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Danieli, Maria Giovanna
(author)
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Gutierrez, Carmen
(author)
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Suarez, Ana
(author)
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Junker, Peter
(author)
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Laustrup, Helle
(author)
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Gonzalez-Escribano, Maria Francisca
(author)
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Martin, Javier
(author)
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Abderrahim, Hadi
(author)
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Alarcon-Riquelme, Marta E
(author)
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Uppsala universitetInstitutionen för genetik och patologi
(creator_code:org_t)
Related titles
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In:Nature Genetics: Springer Science and Business Media LLC40:2, s. 211-2161546-17181061-4036
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- By the author/editor
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Kozyrev, Sergey ...
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Abelson, Anna-Ka ...
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Wojcik, Jerome
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Zaghlool, Ammar
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Reddy, M V Prasa ...
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Sanchez, Elena
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Gunnarsson, Iva
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Svenungsson, Eli ...
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Sturfelt, Gunnar
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Jönsen, Andreas
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Truedsson, Lenna ...
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Pons-Estel, Bern ...
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Witte, Torsten
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D'Alfonso, Sandr ...
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Barrizzone, Nadi ...
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Danieli, Maria G ...
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Gutierrez, Carme ...
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Suarez, Ana
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Junker, Peter
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Laustrup, Helle
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Gonzalez-Escriba ...
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Martin, Javier
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Abderrahim, Hadi
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Alarcon-Riquelme ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Immunology in th ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Rheumatology and ...
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MEDICAL AND HEAL ...
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- Articles in the publication
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Nature Genetics
- By the university
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Lund University
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Karolinska Institutet
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Uppsala University