• 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 ...
    • Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison’s disease 

      Lundtoft, Christian; Eriksson, Daniel; Bianchi, Matteo; Aranda-Guillén, Maribel; Landegren, Nils; Rantapää-Dahlqvist, Solbritt; Söderkvist, Peter; Meadows, Jennifer R.S.; Bensing, Sophie; Pielberg, Gerli Rosengren; Lindblad-Toh, Kerstin; Rönnblom, Lars; Kämpe, Olle (Journal article; Peer reviewed, 2023)
      Objective Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid 21-hydroxylase is encoded by CYP21A2, which is located in the human leucocyte ...
    • X-chromosome variants are associated with aldosterone producing adenomas 

      Dutta, Ravi Kumar; Larsson, Malin; Arnesen, Thomas; Heie, Anette; Walz, Martin K.; Alesina, Piero; Gimm, Oliver; Söderkvist, Peter (Journal article; Peer reviewed, 2021)
      Aldosterone-producing adenomas (APAs) are a major cause of primary aldosteronism (PA) and are characterized by constitutively producing aldosterone, which leads to hypertension. Several mutations have been identified in ...