• Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases 

      Lundtoft, Christian; Pucholt, Pascal; Martin, Myriam; Bianchi, Matteo; Lundström, Emeli; Eloranta, Maija-Leena; Sandling, Johanna K.; Sjöwall, Christopher; Jönsen, Andreas; Gunnarsson, Iva; Rantapää-Dahlqvist, Solbritt; Bengtsson, Anders A.; Leonard, Dag; Baecklund, Eva; Jonsson, Roland; Hammenfors, Daniel; Forsblad-d'Elia, Helena; Eriksson, Per; Mandl, Thomas; Magnusson Bucher, Sara; Norheim, Katrine Brække; Johnsen, Svein Joar Auglæn; Omdal, Roald; Kvarnström, Marika; Wahren Herlenius, Marie Elisabeth; Notarnicola, Antonella; Andersson, Anna Helena; Molberg, Øyvind; Diederichsen, Louise Pyndt; Almlöf, Jonas; Syvänen, Ann-Christine; Kozyrev, Sergey V.; Lindblad-Toh, Kerstin; Rönnblom, Lars; Brokstad, Karl Albert; Skarstein, Kathrine; Jonsson, Malin Viktoria; Appel, Silke; Aqrawi, Lara A.; Jensen, Janicke Liaaen; Palm, Øyvind; Nilsson, Birgitta Blakstad; Blom, Anna M.; Lundberg, Ingrid E.; Nordmark, Gunnel; Diaz-Gallo, Lina Marcela; Svenungsson, Elisabet; Rönnblom, Lars (Journal article; Peer reviewed, 2022)
      Objective Copy number variation of the C4 complement components, C4A and C4B, has been associated with systemic inflammatory autoimmune diseases. This study was undertaken to investigate whether C4 copy number variation ...
    • Differential sensitivity of the 2020 revised comprehensive diagnostic criteria and the 2019 ACR/EULAR classification criteria across IgG4-related disease phenotypes: results from a Norwegian cohort 

      Vikse, Jens; Midtvedt, Øyvind; Fevang, Bjørg Tilde Svanes; Garen, Torhild Oddveig; Palm, Øyvind; Wallenius, Marianne; Bakland, Gunnstein; Norheim, Katrine Brække; Molberg, Øyvind; Hoffmann-Vold, Anna-Maria (Journal article; Peer reviewed, 2023)
      Background We investigated sensitivity of the 2020 Revised Comprehensive Diagnostic Criteria (RCD) and the 2019 ACR/EULAR classification criteria across the four identified IgG4-related disease (IgG4-RD) phenotypes: ...
    • Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells 

      Khatri, Bhuwan; Tessneer, Kandice L.; Rasmussen, Astrid; Aghakhanian, Farhang; Reksten, Tove Ragna; Adler, Adam; Alevizos, Ilias; Anaya, Juan-Manuel; Aqrawi, Lara A.; Baecklund, Eva; Brun, Johan Gorgas; Bucher, Sara Magnusson; Eloranta, Maija-Leena; Engelke, Fiona; Forsblad-d’Elia, Helena; Glenn, Stuart B.; Hammenfors, Daniel; Imgenberg-Kreuz, Juliana; Jensen, Janicke Liaaen; Johnsen, Svein Joar Auglæn; Jonsson, Malin Viktoria; Kvarnström, Marika; Kelly, Jennifer A.; Li, He; Mandl, Thomas; Martín, Javier; Nocturne, Gaétane; Norheim, Katrine Brække; Palm, Øyvind; Skarstein, Kathrine; Stolarczyk, Anna M.; Taylor, Kimberly E.; Teruel, Maria; Theander, Elke; Venuturupalli, Swamy; Wallace, Daniel J.; Grundahl, Kiely M.; Hefner, Kimberly S.; Radfar, Lida; Lewis, David M.; Stone, Donald U.; Kaufman, C. Erick; Brennan, Michael T.; Guthridge, Joel M.; James, Judith A.; Scofield, R. Hal; Gaffney, Patrick M.; Criswell, Lindsey A.; Jonsson, Roland; Eriksson, Per; Bowman, Simon J.; Omdal, Roald; Rönnblom, Lars; Warner, Blake; Rischmueller, Maureen; Witte, Torsten; Farris, A. Darise; Mariette, Xavier; Alarcon-Riquelme, Marta E.; Shiboski, Caroline H.; Herlenius, Marie Elisabeth Wahren; Ng, Wan-Fai; Sivils, Kathy L.; Adrianto, Indra; Nordmark, Gunnel; Lessard, Christopher J. (Journal article; Peer reviewed, 2022)
      Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of ...
    • Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA 

      Dahlqvist, Johanna; Ekman, Diana; Sennblad, Bengt; Kozyrev, Sergey V.; Nordin, Jessika; Karlsson, Åsa; Meadows, Jennifer R. S.; Hellbacher, Erik; Rantapää-Dahlqvist, Solbritt; Berglin, Ewa; Stegmayr, Bernd; Haslund, Bo; Palm, Øyvind; Haukeland, Hilde; Gunnarsson, Iva; Bruchfeld, Annette; Segelmark, Mårten; Ohlsson, Sophie; Mohammad, Aladdin J.; Svärd, Anna Jessica; Pullerits, Rille; Herlitz, Hans; Söderbergh, Annika; Pielberg, Gerli Rosengren; Rosenberg, Lina Hultin; Bianchi, Matteo; Muren, Eva; Omdal, Roald; Jonsson, Roland; Eloranta, Maija-Leena; Rönnblom, Lars; Söderkvist, Peter; Knight, Ann; Eriksson, Per; Lindblad-Toh, Kerstin (Journal article; Peer reviewed, 2021)
      Objective To identify and characterize genetic loci associated with the risk of developing ANCA-associated vasculitides (AAV). Methods Genetic association analyses were performed after Illumina sequencing of 1853 genes ...
    • Proteomic and histopathological characterisation of sicca subjects and primary Sjögren’s syndrome patients reveals promising tear, saliva and extracellular vesicle disease biomarkers 

      Aqrawi, Lara Adnan; Galtung, Hilde; Guerreiro, Eduarda; Øvstebø, Reidun; Thiede, Bernd; Utheim, Tor Paaske; Chen, Xiangjun; Utheim, Øygunn Aass; Palm, Øyvind; Skarstein, Kathrine; Jensen, Janicke Liaaen (Peer reviewed; Journal article, 2019-07-31)
      Background Mononuclear cell infiltration of exocrine glands, production of Ro/SSA and La/SSB autoantibodies, along with oral and ocular dryness, are characteristic features of primary Sjögren’s syndrome (pSS). Non-SS sicca ...
    • Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis 

      Ekman, Diana; Sennblad, Bengt; Knight, Ann; Karlsson, Åsa; Rantapää-Dahlqvist, Solbritt; Berglin, Ewa; Stegmayr, Bernd; Baslund, Bo; Palm, Øyvind; Haukeland, Hilde; Gunnarsson, Iva; Bruchfeld, Annette; Segelmark, Mårten; Ohlsson, Sophie; Mohammad, Aladdin J; Svärd, Anna; Pullerits, Rille; Herlitz, Hans; Söderbergh, Annika; Omdal, Roald; Jonsson, Roland; Rönnblom, Lars; Eriksson, Per; Lindblad-Toh, Kerstin; Dahlqvist, Johanna (Journal article; Peer reviewed, 2023)
      Objective To identify and genetically characterize subgroups of patients with ANCA-associated vasculitides (AAV) based on sex and ANCA subtype. Methods A previously established SNP dataset derived from DNA sequencing ...