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  • Lundtoft, ChristianUppsala universitet,Uppsala University,Uppsala Univ, Sweden,Reumatologi,Department of Medical Sciences, Uppsala University, Uppsala, Sweden (författare)

The HLA region in ANCA-associated vasculitis : characterisation of genetic associations in a Scandinavian patient population

  • Artikel/kapitelEngelska2024

Förlag, utgivningsår, omfång ...

  • BMJ PUBLISHING GROUP,2024

Nummerbeteckningar

  • LIBRIS-ID:oai:lup.lub.lu.se:1f8ed40c-1c73-4acf-b83a-6c2652bb4bd0
  • https://lup.lub.lu.se/record/1f8ed40c-1c73-4acf-b83a-6c2652bb4bd0URI
  • https://doi.org/10.1136/rmdopen-2023-004039DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-203253URI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:155684432URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-527882URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-223645URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:art swepub-publicationtype
  • Ämneskategori:ref swepub-contenttype

Anmärkningar

  • Funding Agencies|Swedish Society for Medical Research; Swedish Research Council; Swedish Society of Medicine; Swedish Rheumatism Association; King Gustav V's 80- year Foundation; Knut and Alice Wallenberg Foundation; Uppsala University Hospital
  • OBJECTIVE: The antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) are inflammatory disorders with ANCA autoantibodies recognising either proteinase 3 (PR3-AAV) or myeloperoxidase (MPO-AAV). PR3-AAV and MPO-AAV have been associated with distinct loci in the human leucocyte antigen (HLA) region. While the association between MPO-AAV and HLA has been well characterised in East Asian populations where MPO-AAV is more common, studies in populations of European descent are limited. The aim of this study was to thoroughly characterise associations to the HLA region in Scandinavian patients with PR3-AAV as well as MPO-AAV.METHODS: Genotypes of single-nucleotide polymorphisms (SNPs) located in the HLA region were extracted from a targeted exome-sequencing dataset comprising Scandinavian AAV cases and controls. Classical HLA alleles were called using xHLA. After quality control, association analyses were performed of a joint SNP/classical HLA allele dataset for cases with PR3-AAV (n=411) and MPO-AAV (n=162) versus controls (n=1595). Disease-associated genetic variants were analysed for association with organ involvement, age at diagnosis and relapse, respectively.RESULTS: PR3-AAV was significantly associated with both HLA-DPB1*04:01 and rs1042335 at the HLA-DPB1 locus, also after stepwise conditional analysis. MPO-AAV was significantly associated with HLA-DRB1*04:04. Neither carriage of HLA-DPB1*04:01 alleles in PR3-AAV nor of HLA-DRB1*04:04 alleles in MPO-AAV were associated with organ involvement, age at diagnosis or relapse. CONCLUSIONS: The association to the HLA region was distinct in Scandinavian cases with MPO-AAV compared with cases of East Asian descent. In PR3-AAV, the two separate signals of association to the HLD-DPB1 region mediate potentially different functional effects.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Knight, AnnUppsala universitet,Reumatologi,Uppsala Univ Hosp, Uppsala, Sweden.,Department of Medical Sciences, Uppsala University, Uppsala, Sweden; Uppsala University Hospital, Uppsala, Sweden(Swepub:uu)ankni172 (författare)
  • Meadows, JenniferUppsala universitet,Uppsala University,Uppsala Univ, Sweden,Institutionen för medicinsk biokemi och mikrobiologi,Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden(Swepub:uu)jenme818 (författare)
  • Karlsson, ÅsaUppsala universitet,Uppsala University,Uppsala Univ, Sweden,Institutionen för medicinsk biokemi och mikrobiologi,Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden(Swepub:uu)asaka483 (författare)
  • Rantapää-Dahlqvist, SolbrittUmeå universitet,Umeå University,Umeå Univ, Dept Publ Hlth & Clin Med, Umeå, Sweden.,Institutionen för folkhälsa och klinisk medicin(Swepub:umu)sora0001 (författare)
  • Berglin, Ewa,MD, PhD,1955-Umeå universitet,Umeå University,Umeå Univ, Dept Publ Hlth & Clin Med, Umeå, Sweden.,Institutionen för folkhälsa och klinisk medicin(Swepub:umu)evbe0009 (författare)
  • Palm, ØyvindDepartment of Rheumatology, Oslo University Hospital, Oslo, Norway,Oslo Univ Hosp, Dept Rheumatol, Oslo, Norway. (författare)
  • Haukeland, HildeDepartment of Rheumatology, Martina Hansens Hospital, Sandvika, Norway,Martina Hansens Hosp, Dept Rheumatol, Sandvika, Norway. (författare)
  • Gunnarsson, IvaKarolinska Institute,Karolinska Inst, Dept Med, Stockholm, Sweden.;Karolinska Univ Hosp, Unit Rheumatol, Stockholm, Sweden.,Department of Medicine, Karolinska Institutet, Stockholm, Sweden; Unit of Rheumatology, Karolinska University Hospital, Stockholm, Sweden (författare)
  • Bruchfeld, AnnetteKarolinska Institutet,Linköpings universitet,Linköping University,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, Njurmedicinska kliniken US,Linköping Univ, Dept Hlth Med & Caring Sci, Linköping, Sweden.;Karolinska Univ Hosp, Dept Renal Med, Stockholm, Sweden.;CLINTEC Karolinska Inst, Stockholm, Sweden.,Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden; Department of Renal Medicine, Karolinska University Hospital, CLINTEC Karolinska Institutet, Stockholm, Sweden(Swepub:liu)anbru14 (författare)
  • Segelmark, MårtenLund University,Lunds universitet,Autoimmunitet och njursjukdomar,Forskargrupper vid Lunds universitet,Autoimmunity and kidney diseases,Lund University Research Groups,Department of Clinical Sciences, Lund University, Skåne University Hospital, Lund, Sweden,Lund Univ, Dept Clin Sci, Lund, Sweden.;Skane Univ Hosp, Lund, Sweden.(Swepub:lu)njur-mse (författare)
  • Ohlsson, SophieLund University,Lunds universitet,Autoimmunitet och njursjukdomar,Forskargrupper vid Lunds universitet,Autoimmunity and kidney diseases,Lund University Research Groups,Department of Clinical Sciences, Lund University, Skåne University Hospital, Lund, Sweden,Lund Univ, Dept Clin Sci, Lund, Sweden.;Skane Univ Hosp, Lund, Sweden.(Swepub:lu)njur-soh (författare)
  • Mohammad, Aladdin JLund University,Lunds universitet,Lund OsteoArthritis Division - Clinical Epidemiology Unit,Forskargrupper vid Lunds universitet,Lund Vasculitis Epidemiology Research Group,Lund University Research Groups,Department of Clinical Sciences, Lund University, Skåne University Hospital, Lund, Sweden; Department of Medicine, University of Cambridge, Cambridge, United Kingdom,Skåne University Hospital,Lund Univ, Dept Clin Sci, Lund, Sweden.;Skane Univ Hosp, Lund, Sweden.;Univ Cambridge, Dept Med, Cambridge, England.(Swepub:lu)reum-amo (författare)
  • Eriksson, PerLinköpings universitet,Linköping University,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland,Linköping Univ, Dept Biomed & Clin Sci, Linköping, Sweden.,Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden(Swepub:liu)perer22 (författare)
  • Söderkvist, PeterLinköping University,Skane Univ Hosp, Lund, Sweden.,Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden (författare)
  • Rönnblom, LarsUppsala universitet,Uppsala University,Uppsala Univ, Sweden,Reumatologi,Department of Medical Sciences, Uppsala University, Uppsala, Sweden(Swepub:uu)larsronn (författare)
  • Omdal, RoaldResearch Department, Stavanger University Hospital, Stavanger, Norway; Department of Clinical Science, University of Bergen, Bergen, Norway,Stavanger Univ Hosp, Res Dept, Stavanger, Norway.;Univ Bergen, Dept Clin Sci, Bergen, Norway. (författare)
  • Jonsson, RolandBroegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Hordaland, Bergen, Norway,Univ Bergen, Dept Clin Sci, Broegelmann Res Lab, Bergen, Hordaland, Norway. (författare)
  • Lindblad-Toh, KerstinUppsala universitet,Uppsala University,Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; The Broad Institute of MIT, Harvard University, MA, Cambridge, United States,Uppsala Univ, Sweden; Broad Inst MIT& Harvard Univ, MA USA,Institutionen för medicinsk biokemi och mikrobiologi,Broad Inst MIT& Harvard Univ, Cambridge, MA USA.(Swepub:uu)kerli865 (författare)
  • Dahlqvist, Johanna,1979-Uppsala universitet,Uppsala University,Uppsala Univ, Sweden; Uppsala Univ Hosp, Sweden,Reumatologi,Department of Medical Sciences, Uppsala University, Uppsala, Sweden; Uppsala University Hospital, Uppsala, Sweden(Swepub:uu)johda205 (författare)
  • Palm, O (författare)
  • Uppsala UniversityUppsala Univ, Sweden (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:RMD Open: BMJ PUBLISHING GROUP10:2, s. 1-102056-5933

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