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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 G; 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 Auglænd; Jonsson, Malin V; 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.
Afiliação
  • Khatri B; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Tessneer KL; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Rasmussen A; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Aghakhanian F; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Reksten TR; Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Adler A; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Alevizos I; NGS Core Laboratory, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Anaya JM; Salivary Disorder Unit, National Institute of Dental and Craniofacial Research, Bethesda, MD, USA.
  • Aqrawi LA; Center for Autoimmune Diseases Research (CREA), Universidad del Rosario, Bogotá, Colombia.
  • Baecklund E; Department of Oral Surgery and Oral Medicine, Faculty of Dentistry, University of Oslo, Oslo, Norway.
  • Brun JG; Department of Health Sciences, Kristiania University College, Oslo, Norway.
  • Bucher SM; Department of Medical Sciences, Rheumatology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Eloranta ML; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Engelke F; Department of Rheumatology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
  • Forsblad-d'Elia H; Department of Medical Sciences, Rheumatology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Glenn SB; Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany.
  • Hammenfors D; Department of Rheumatology and Inflammation Research, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.
  • Imgenberg-Kreuz J; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Jensen JL; Department of Rheumatology, Haukeland University Hospital, Bergen, Norway.
  • Johnsen SJA; Department of Medical Sciences, Rheumatology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
  • Jonsson MV; Department of Oral Surgery and Oral Medicine, Faculty of Dentistry, University of Oslo, Oslo, Norway.
  • Kvarnström M; Department of Internal Medicine, Clinical Immunology Unit, Stavanger University Hospital, Stavanger, Norway.
  • Kelly JA; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Li H; Section for Oral and Maxillofacial Radiology, Department of Clinical Dentistry, Medical Faculty, University of Bergen, Bergen, Norway.
  • Mandl T; Rheumatology Unity, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
  • Martín J; Academic Specialist Center, Center for Rheumatology and Studieenheten, Stockholm Health Services, Region Stockholm, Sweden.
  • Nocturne G; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Norheim KB; Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Palm Ø; Translational Sciences, The Janssen Pharmaceutical Companies of Johnson & Johnson, Spring House, PA, USA.
  • Skarstein K; Rheumatology, Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden.
  • Stolarczyk AM; Instituto de Biomedicina y Parasitología López-Neyra, Consejo Superior de Investigaciones Científicas (CSIC), Granada, Spain.
  • Taylor KE; Université Paris-Saclay, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Bicêtre, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR1184, Le Kremlin Bicêtre, France.
  • Teruel M; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Theander E; Department of Rheumatology, Stavanger University Hospital, Stavanger, Norway.
  • Venuturupalli S; Department of Rheumatology, University of Oslo, Oslo, Norway.
  • Wallace DJ; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Grundahl KM; Department of Pathology, Haukeland University Hospital, Bergen, Norway.
  • Hefner KS; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Radfar L; Department of Medicine, Russell/Engleman Rheumatology Research Center, University of California San Francisco, San Francisco, California, USA.
  • Lewis DM; Genyo, Center for Genomics and Oncological Research, Pfizer/University of Granada/Andalusian Regional Government, Granada, Spain.
  • Stone DU; Department of Rheumatology, Skåne University Hospital, Malmö, Sweden.
  • Kaufman CE; Medical Affairs, Jannsen-Cilag EMEA (Europe/Middle East/Africa), Beerse, Belgium.
  • Brennan MT; Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Guthridge JM; David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • James JA; Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
  • Scofield RH; David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • Gaffney PM; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Criswell LA; Hefner Eye Care and Optical Center, Oklahoma City, OK, USA.
  • Jonsson R; Oral Diagnosis and Radiology Department, University of Oklahoma College of Dentistry, Oklahoma City, OK, USA.
  • Eriksson P; Department of Oral and Maxillofacial Pathology, University of Oklahoma College of Dentistry, Oklahoma City, OK, USA.
Nat Commun ; 13(1): 4287, 2022 07 27.
Article em En | MEDLINE | ID: mdl-35896530
ABSTRACT
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 European ancestry CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Sjogren / Estudo de Associação Genômica Ampla Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Sjogren / Estudo de Associação Genômica Ampla Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos