• Auxilin is a novel susceptibility gene for congenital heart block which directly impacts fetal heart function 

      Meisgen, Sabrina; Hedlund, Malin; Ambrosi, Aurelie; Folkersen, Lasse; Ottosson, Vijole; Forsberg, David; Thorlacius, Gudny Ella; Biavati, Luca; Strandberg, Linn; Mofors, Johannes; Ramskold, Daniel; Ruhrmann, Sabrina; Meneghel, Lauro; Nyberg, William; Espinosa, Alexander; Hamilton, Robert Murray; Franco-Cereceda, Anders; Hamsten, Anders; Olsson, Tomas; Greene, Lois; Eriksson, Per; Gemzell-Danielsson, Kristina; Salomonsson, Stina; Kuchroo, Vijay K; Herlenius, Eric; Kockum, Ingrid; Sonesson, Sven-Erik; Herlenius, Marie Elisabeth Wahren (Journal article; Peer reviewed, 2022)
      Objective: Neonatal lupus erythematosus (NLE) may develop after transplacental transfer of maternal autoantibodies with cardiac manifestations (congenital heart block, CHB) including atrioventricular block, atrial and ...
    • 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 ...
    • 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 ...
    • In Silico Detection of Sequence Variations Modifying Transcriptional Regulation 

      Andersen, Malin C.; Engström, Pär G.; Lithwick, Stuart; Lithwick, David; Eriksson, Per; Lenhard, Boris; Wasserman, Wyeth W.; Odeberg, Jacob (Journal article; Peer reviewed, 2008-01-18)
      Identification of functional genetic variation associated with increased susceptibility to complex diseases can elucidate genes and underlying biochemical mechanisms linked to disease onset and progression. For genes linked ...
    • Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability 

      Lagou, Vasiliki; Mägi, Reedik; Hottenga, Jouke- Jan; Grallert, Harald; Perry, John R. B.; Bouatia-Naji, Nabila; Marullo, Letizia; Rybin, Denis V.; Jansen, Rick; Min, JL; Dimas, AS; Ulrich, Anna; Zudina, Liudmila; Gådin, Jesper R.; Jiang, Longda; Faggian, Alessia; Bonnefond, Amélie; Fadista, Joao; Stathopoulou, Maria G.; Isaacs, Aaron; Willems, Sara M.; Navarro, Pau; Tanaka, Toshiko; Jackson, Anne U.; Montasser, May E.; O’Connell, Jeff R.; Bielak, Lawrence F.; Webster, Rebecca J.; Saxena, Richa; Stafford, Jeanette M.; Pourcain, Beate St; Timpson, Nicholas J.; Salo, Perttu; Shin, SY; Amin, Najaf; Smith, Albert V.; Li, G; Verweij, Niek; Goel, Anuj; Ford, Ian; Johnson, Paul C. D.; Johnson, Toby; Kapur, Karen; Thorleifsson, Gudmar; Strawbridge, Rona J.; Rasmussen-Torvik, Laura J.; Esko, Tõnu; Mihailov, E; Fall, Tove; Fraser, Ross M; Mahajan, Anubha; Kanoni, Stavroula; Giedraitis, Vilmantas; Kleber, Marcus E.; Silbernagel, Günther; Meyer, Julia; Müller-Nurasyid, Martina; Ganna, Andrea; Sarin, Antti-Pekka; Yengo, Loic; Shungin, D; Luan, Jian’an; Horikoshi, Momoko; An, Ping; Sanna, Serena; Boettcher, Yvonne; Rayner, Nigel W; Nolte, Ilja M.; Zemunik, Tatijana; Iperen, Erik van; Kovacs, Peter; Hastie, Nicholas D.; Wild, Sarah H.; McLachlan, Stela; Campbell, Susan; Polasek, Ozren; Carlson, Olga; Egan, Josephine; Kiess, Wieland; Willemsen, Gonneke; Kuusisto, Johanna; Laakso, Markku; Dimitriou, M; Hicks, Andrew A.; Rauramaa, Rainer; Bandinelli, Stefania; Thorand, Barbara; Liu, Yongmei; Miljkovic, Iva; Lind, Lars; Doney, Alex; Perola, Markus; Hingorani, Aroon; Kivimaki, Mika; Kumari, Meena; Bennett, Amanda J.; Groves, Christopher J.; Herder, Christian; Koistinen, Heikki A.; Kinnunen, Leena; Faire, Ulf de; Bakker, Stephan J. L.; Uusitupa, Matti; Palmer, Colin N. A.; Jukema, J. Wouter; Sattar, Naveed; Pouta, Anneli; Snieder, Harold; Boerwinkle, Eric; Pankow, James S.; Magnusson, Patrik K.; Krus, Ulrika; Scapoli, Chiara; de Geus, Eco J. C. N.; Blüher, Matthias; Wolffenbuttel, Bruce H. R.; Province, Michael A.; Abecasis, Goncalo R.; Meigs, James B.; Hovingh, G. Kees; Lindström, Jaana; Wilson, JF; Wright, Alan F.; Dedoussis, George; Bornstein, Stefan R.; Schwarz, Peter E. H.; Tönjes, Anke; Winkelmann, Bernhard R.; Boehm, Bernhard O.; März, Winfried; Metspalu, Andres; Price, Jackie F.; Deloukas, Panos; Körner, Antje; Lakka, Timo A.; Keinanen-Kiukaanniemi, Sirkka M.; Saaristo, Timo E.; Bergman, Richard N.; Tuomilehto, Jaakko; Wareham, Nick; Langenberg, Claudia; Männistö, Satu; Franks, Paul W; Hayward, Caroline; Vitart, Veronique; Kaprio, Jaakko; Visvikis-Siest, Sophie; Balkau, Beverley; Altshuler, D; Rudan, Igor; Stumvoll, Michael; Campbell, Harry; van Duijn, Cornelia M.; Gieger, Christian; Illig, Thomas; Ferrucci, Luigi; Pedersen, Nancy L.; Pramstaller, Peter P.; Boehnke, Michael; Frayling, TM; Shuldiner, Alan R.; Peyser, Patricia A.; Kardia, Sharon L. R.; Palmer, Lyle J.; Penninx, Brenda W.; Meneton, Pierre; Harris, Tamara B.; Navis, Gerjan; Harst, Pim van der; Smith, George Davey; Forouhi, Nita G.; Loos, Ruth J. F.; Salomaa, Veikko; Soranzo, Nicole; Boomsma, Dorret I.; Groop, L; Tuomi, Tiinamaija; Hofman, Albert; Munroe, Patricia B.; Gudnason, Vilmundur; Siscovick, David S.; Watkins, Hugh; Lecoeur, Cecile; Vollenweider, Peter; Franco-Cereceda, Anders; Eriksson, Per; Jarvelin, Marjo-Riitta; Stefansson, Kari; Hamsten, Anders; Nicholson, George; Karpe, Fredrik; Dermitzakis, Emmanouil T.; Lindgren, Cecilia M.; McCarthy, Mark I.; Froguel, Philippe; Kaakinen, Marika A.; Lyssenko, Valeriya; Watanabe, Richard M.; Ingelsson, Erik; Florez, Jose C.; Dupuis, Josée; Barroso, I; Morris, Andrew P.; Prokopenko, Inga (Journal article; Peer reviewed, 2021)
      Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in ...
    • 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 ...
    • 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 ...