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Tytuł pozycji:

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

Tytuł:
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.
Autorzy:
Eriksson D; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Røyrvik EC; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.
Aranda-Guillén M; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.
Berger AH; 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.
Landegren N; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.; Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Artaza H; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.
Hallgren Å; Centre for Molecular Medicine, Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden.
Grytaas MA; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Ström S; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Bratland E; 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.
Botusan IR; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Oftedal BE; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.
Breivik L; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Vaudel M; Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway.
Helgeland Ø; 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.
Falorni A; Department of Medicine, University of Perugia, Perugia, Italy.
Jørgensen AP; Section of Specialized Endocrinology, Department of Endocrinology, Oslo University Hospital, Oslo, Norway.
Hulting AL; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Svartberg J; 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.
Ekwall O; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Fougner KJ; Department of Endocrinology, St. Olavs Hospital, Trondheim, Norway.
Wahlberg J; Department of Endocrinology, Linköping University, Linköping, Sweden.; Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden.
Nedrebø BG; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Internal Medicine, Haugesund Hospital, Haugesund, Norway.
Dahlqvist P; Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.
Knappskog PM; 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.
Wolff ASB; Department of Clinical Science, University of Bergen, Bergen, Norway.; K.G. Jebsen Center for Autoimmune Diseases, University of Bergen, Bergen, Norway.
Bensing S; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Johansson S; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Kämpe O; 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 Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden. .
Husebye ES; 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. .
Corporate Authors:
Norwegian Addison Registry Study Group
Swedish Addison Registry Study Group
Źródło:
Nature communications [Nat Commun] 2021 Feb 11; Vol. 12 (1), pp. 959. Date of Electronic Publication: 2021 Feb 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
Język:
English
Imprint Name(s):
Original Publication: [London] : Nature Pub. Group
MeSH Terms:
Genome-Wide Association Study*
Addison Disease/*genetics
Basic-Leucine Zipper Transcription Factors/genetics ; CTLA-4 Antigen/genetics ; Female ; Humans ; Male ; Models, Molecular ; Protein Tyrosine Phosphatase, Non-Receptor Type 22/genetics ; Risk
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Contributed Indexing:
Investigator: H Ræder; N Jovanovic; SC Reisegg; G Hølleland; S Carlsen; TJ Berg; JB Eggesbø; T Svendsen; K Lima; I Nermoen; R Whitfield; S Sollid; D Aarskog; E Korsgaard; S Sæta; T Finnes; SF Valland; C Fossum; E Brevik; RB Moe; M Svendsen; A Debowska; P Milova; S Holte; AE Tomkowicz; DE Sørmo; A Svare; ML Rensvik; R Revheim; T Haug; I Blix; LP Jensen; AK Åkerman; AL Hulting; B Lindberg; B Kriström; E Waldenström; G Johannsson; J Skov; J Wahlberg; K Duchen; M Isaksson; M Elfving; MH Stenlid; O Nilsson; O Kämpe; O Ekwall; P Dahlqvist; R Bergthorsdottir; R Nergårdh; S Björnsdottir; S Bensing; T Olsson
Substance Nomenclature:
0 (BACH2 protein, human)
0 (Basic-Leucine Zipper Transcription Factors)
0 (CTLA-4 Antigen)
0 (CTLA4 protein, human)
EC 3.1.3.48 (PTPN22 protein, human)
EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 22)
Entry Date(s):
Date Created: 20210212 Date Completed: 20210226 Latest Revision: 20210226
Update Code:
20240104
PubMed Central ID:
PMC7878795
DOI:
10.1038/s41467-021-21015-8
PMID:
33574239
Czasopismo naukowe
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 (h 2 ).

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