• 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 ...
    • Genetic and clinical basis for two distinct subtypes of primary Sjögren's syndrome 

      Thorlacius, Gudny Ella; Hultin-Rosenberg, Lina; Sandling, Johanna K.; Bianchi, Matteo; Imgenberg-Kreuz, Juliana; Theander, Elke; Kvarnström, Marika; Forsblad-d’Elia, Helena; Bucher, Sara Magnusson; Norheim, Katrine Brække; Johnsen, Svein Joar Auglænd; Hammenfors, Sten Daniel; Skarstein, Kathrine; Jonsson, Malin V; Bäcklund, Eva; consortium, the DISSECT; meadows, jennifer r; Rantapää-Dahlqvist, Solbritt; Mandl, Thomas; Eriksson, Per; Omdal, Roald; Jonsson, Sten Ture Roland; Lindblad-Toh, Kerstin; Rönnblom, Lars; Wahren-Herlenius, Marie; Nordmark, Gunnel (Journal article; Peer reviewed, 2020)
      Objectives Clinical presentation of primary Sjögren’s syndrome (pSS) varies considerably. A shortage of evidence-based objective markers hinders efficient drug development and most clinical trials have failed to reach ...
    • 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 ...
    • Strong association of combined genetic deficiencies in the classical complement pathway with risk of systemic lupus erythematosus and primary Sjögren's syndrome 

      Lundtoft, Christian; Sjöwall, Christopher; Rantapää-Dahlqvist, Solbritt; Bengtsson, Anders A.; Jönsen, Andreas; Pucholt, Pascal; Wu, Yee Ling; Lundström, Emeli; Eloranta, Maija-Leena; Gunnarsson, Iva; Baecklund, Eva; Jonsson, Roland; Hammenfors, Daniel; Forsblad-d'Elia, Helena; Eriksson, Per; Mandl, Thomas; Bucher, Sara; Norheim, Katrine Brække; Johnsen, Svein Joar Auglæn; Omdal, Roald; Kvarnström, Marika; Wahren Herlenius, Marie Elisabeth; Truedsson, Lennart; Nilsson, Bo; Kozyrev, Sergey V.; Bianchi, Matteo; Lindblad-Toh, Kerstin; Yu, Chack-Yung; Nordmark, Gunnel; Sandling, Johanna K.; Svenungsson, Elisabet; Leonard, Dag; Rönnblom, Lars (Journal article; Peer reviewed, 2022)
      Objective Complete genetic deficiency of the complement component C2 is a strong risk factor for monogenic systemic lupus erythematosus (SLE), but whether heterozygous C2 deficiency adds to the risk of SLE or primary ...