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GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility

Eriksson, Daniel (författare)
Karolinska Institutet,Uppsala universitet,Medicinsk genetik och genomik,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.,Karolinska Inst, Sweden; Uppsala Univ Hosp, Sweden; Uppsala Univ, Sweden
Røyrvik, Ellen Christine (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.
Aranda-Guillén, Maribel (författare)
Karolinska Institutet
visa fler...
Berger, Amund Holte (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.;Haukeland Hosp, Dept Med Genet, Bergen, Norway.
Landegren, Nils, 1986- (författare)
Karolinska Institutet,Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.,Karolinska Inst, Sweden; Uppsala Univ, Sweden
Artaza, Haydee (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.
Hallgren, Åsa (författare)
Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
Grytaas, Marianne Aardal (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Haukeland Hosp, Dept Med, Bergen, Norway.
Ström, Sara (författare)
Karolinska Institutet
Bratland, Eirik (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.;Haukeland Hosp, Dept Med Genet, Bergen, Norway.
Botusan, Ileana Ruxandra (författare)
Karolinska Institutet
Oftedal, Bergithe Eikeland (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.
Breivik, Lars (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Haukeland Hosp, Dept Med, Bergen, Norway.
Vaudel, Marc (författare)
Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway,Univ Bergen, Ctr Diabet Res, Dept Clin Sci, Bergen, Norway.
Helgeland, Øyvind (författare)
Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Genetics and Bioinformatics, Domain of Health Data and Digitalisation, Institute of Public Health, Oslo, Norway,Univ Bergen, Ctr Diabet Res, Dept Clin Sci, Bergen, Norway.;Inst Publ Hlth, Dept Genet & Bioinformat, Domain Hlth Data & Digitalisat, Oslo, Norway.
Falorni, Alberto (författare)
Department of Medicine, University of Perugia, Perugia, Italy,Univ Perugia, Dept Med, Perugia, Italy.
Jørgensen, Anders Palmstrøm (författare)
Section of Specialized Endocrinology, Department of Endocrinology, Oslo University Hospital, Oslo, Norway,Oslo Univ Hosp, Dept Endocrinol, Sect Specialized Endocrinol, Oslo, Norway.
Hulting, Anna-Lena (författare)
Karolinska Institutet
Svartberg, Johan (författare)
Tromsø Endocrine Research Group, Department of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway; Division of Internal Medicine, University Hospital of North Norway, Tromsø, Norway,UiT Arctic Univ Norway, Dept Clin Med, Tromso Endocrine Res Grp, Tromso, Norway.;Univ Hosp North Norway, Div Internal Med, Tromso, Norway.
Ekwall, Olov, 1968 (författare)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
Fougner, Kristian Johan (författare)
Department of Endocrinology, St. Olavs Hospital, Trondheim, Norway,St Olavs Hosp, Dept Endocrinol, Trondheim, Norway.
Wahlberg, Jeanette, 1969- (författare)
Linköpings universitet,Medicinska fakulteten,Avdelningen för diagnostik och specialistmedicin,Region Östergötland, Endokrinmedicinska kliniken
Nedrebø, Bjørn Gunnar (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Internal Medicine, Haugesund Hospital, Haugesund, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Haugesund Hosp, Dept Internal Med, Haugesund, Norway.
Dahlqvist, Per (författare)
Umeå universitet,Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, Umeå, Sweden.
Knappskog, Per Morten (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.;Haukeland Hosp, Dept Med Genet, Bergen, Norway.
Bøe Wolff, Anette Susanne (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.
Bensing, Sophie (författare)
Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden,Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden.;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
Johansson, Stefan (författare)
Department of Clinical Science, University of Bergen, Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway,Univ Bergen, Dept Clin Sci, Bergen, Norway.;Haukeland Hosp, Dept Med Genet, Bergen, Norway.
Kämpe, Olle (författare)
Karolinska Institutet
Husebye, Eystein Sverre (författare)
Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden; Department of Clinical Science, University of Bergen, Bergen, Norway; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway; Department of Medicine, Haukeland University Hospital, Bergen, Norway,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;Univ Bergen, Dept Clin Sci, Bergen, Norway.;Univ Bergen, KG Jebsen Ctr Autoimmune Dis, Bergen, Norway.;Haukeland Hosp, Dept Med, Bergen, Norway.
Norwegian Addison Registry Study Group, - (bidragsgivare)
visa färre...
 (creator_code:org_t)
2021-02-11
2021
Engelska.
Ingår i: Nature Communications. - : Nature Publishing Group. - 2041-1723. ; 12:1
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Autoimmune Addison's disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first genome-wide association study on AAD, which identifies nine independent risk loci (P < 5 × 10-8). In addition to loci implicated in lymphocyte function and development shared with other autoimmune diseases such as HLA, BACH2, PTPN22 and CTLA4, we associate two protein-coding alterations in Autoimmune Regulator (AIRE) with AAD. The strongest, p.R471C (rs74203920, OR = 3.4 (2.7-4.3), P = 9.0 × 10-25) introduces an additional cysteine residue in the zinc-finger motif of the second PHD domain of the AIRE protein. This unbiased elucidation of the genetic contribution to development of AAD points to the importance of central immunological tolerance, and explains 35-41% of heritability (h2). 

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)

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