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

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

Lundtoft, Christian (author): Uppsala universitet,Uppsala University,Uppsala Univ, Sweden,Reumatologi,Department of Medical Sciences, Uppsala University, Uppsala, Sweden

Knight, Ann (author): Uppsala universitet,Reumatologi,Uppsala Univ Hosp, Uppsala, Sweden.,Department of Medical Sciences, Uppsala University, Uppsala, Sweden; Uppsala University Hospital, Uppsala, Sweden

Meadows, Jennifer (author): Uppsala universitet,Uppsala University,Uppsala Univ, Sweden,Institutionen för medicinsk biokemi och mikrobiologi,Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden

Karlsson, Åsa (author): Uppsala universitet,Uppsala University,Uppsala Univ, Sweden,Institutionen för medicinsk biokemi och mikrobiologi,Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden

Rantapää-Dahlqvist, Solbritt (author): Umeå universitet,Umeå University,Umeå Univ, Dept Publ Hlth & Clin Med, Umeå, Sweden.,Institutionen för folkhälsa och klinisk medicin

Berglin, Ewa, MD, PhD, 1955- (author): Umeå universitet,Umeå University,Umeå Univ, Dept Publ Hlth & Clin Med, Umeå, Sweden.,Institutionen för folkhälsa och klinisk medicin

Palm, Øyvind (author): Department of Rheumatology, Oslo University Hospital, Oslo, Norway,Oslo Univ Hosp, Dept Rheumatol, Oslo, Norway.

Haukeland, Hilde (author): Department of Rheumatology, Martina Hansens Hospital, Sandvika, Norway,Martina Hansens Hosp, Dept Rheumatol, Sandvika, Norway.

Gunnarsson, Iva (author): Karolinska 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

Bruchfeld, Annette (author): Karolinska 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

Segelmark, Mårten (author): Lund 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.

Ohlsson, Sophie (author): Lund 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.

Mohammad, Aladdin J (author): Lund 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.

Eriksson, Per (author): Linköpings 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

Söderkvist, Peter (author): Linköping University,Skane Univ Hosp, Lund, Sweden.,Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden

Rönnblom, Lars (author): Uppsala universitet,Uppsala University,Uppsala Univ, Sweden,Reumatologi,Department of Medical Sciences, Uppsala University, Uppsala, Sweden

Omdal, Roald (author): Research 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.

Jonsson, Roland (author): Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Hordaland, Bergen, Norway,Univ Bergen, Dept Clin Sci, Broegelmann Res Lab, Bergen, Hordaland, Norway.

Lindblad-Toh, Kerstin (author): Uppsala 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.

Dahlqvist, Johanna, 1979- (author): 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

Palm, O (author)

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BMJ PUBLISHING GROUP, 2024
2024
English.
In: RMD Open. - : BMJ PUBLISHING GROUP. - 2056-5933. ; 10:2, s. 1-10

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Journal article (peer-reviewed)

Abstract Subject headings

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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)

Keyword

Humans
Antibodies, Antineutrophil Cytoplasmic/genetics
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/genetics
Myeloblastin/genetics
Genotype
Recurrence
Systemic vasculitis; Granulomatosis with polyangiitis; Autoimmune Diseases; Polymorphism

Publication and Content Type

art (subject category)
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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Rheumatology and ...

Articles in the publication: RMD Open

By the university: Lund University; Linköping University; Karolinska Institutet; Uppsala University; Umeå University

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