{"entity": "researcher", "timestamp": "2026-07-11T23:22:48.492Z", "family": "Husebye", "given": "Eystein S", "initials": "ES", "orcid": "0000-0002-7886-2976", "affiliations": ["Department of Clinical Science and K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway.", "Department of Medicine, Haukeland University Hospital, Bergen, Norway.", "Department of Medicine (Solna), Karolinska Institutet, Stockholm, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/370273203e0e4734ac49a209ae066ac2.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/370273203e0e4734ac49a209ae066ac2"}}, "publications": [{"entity": "publication", "iuid": "4f215604012947b6b889fbcd7ced04a3", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4f215604012947b6b889fbcd7ced04a3.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4f215604012947b6b889fbcd7ced04a3"}}, "title": "GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.", "authors": [{"family": "Eriksson", "given": "Daniel", "initials": "D", "orcid": "0000-0001-5473-3312", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9c26578a5e548f783b9465e04fb0bfc.json"}}, {"family": "R\u00f8yrvik", "given": "Ellen Christine", "initials": "EC", "orcid": "0000-0002-8979-1704", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd868b2b958946959cb0e7e7b5af9da7.json"}}, {"family": "Aranda-Guill\u00e9n", "given": "Maribel", "initials": "M", "orcid": "0000-0003-0050-704X", "researcher": {"href": "https://publications.scilifelab.se/researcher/65dc88b917274bc595daed855b63abab.json"}}, {"family": "Berger", "given": "Amund Holte", "initials": "AH", "orcid": "0000-0001-6973-2048", "researcher": {"href": "https://publications.scilifelab.se/researcher/af8b1a7f74804ed19a47492d9ae516ef.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Artaza", "given": "Haydee", "initials": "H", "orcid": "0000-0002-1585-5488", "researcher": {"href": "https://publications.scilifelab.se/researcher/25707fcf0fa84ca78541e70e4ff1eca2.json"}}, {"family": "Hallgren", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Grytaas", "given": "Marianne Aardal", "initials": "MA", "orcid": "0000-0001-9016-628X", "researcher": {"href": "https://publications.scilifelab.se/researcher/b6b1dce0512245619e56be4ecd5de8eb.json"}}, {"family": "Str\u00f6m", "given": "Sara", "initials": "S"}, {"family": "Bratland", "given": "Eirik", "initials": "E"}, {"family": "Botusan", "given": "Ileana Ruxandra", "initials": "IR"}, {"family": "Oftedal", "given": "Bergithe Eikeland", "initials": "BE"}, {"family": "Breivik", "given": "Lars", "initials": "L", "orcid": "0000-0003-2889-7342", "researcher": {"href": "https://publications.scilifelab.se/researcher/8098f538b89d4073b79a3e60eae48b7c.json"}}, {"family": "Vaudel", "given": "Marc", "initials": "M", "orcid": "0000-0003-1179-9578", "researcher": {"href": "https://publications.scilifelab.se/researcher/920056fb632147559a0d9e3f49c6bdbd.json"}}, {"family": "Helgeland", "given": "\u00d8yvind", "initials": "\u00d8", "orcid": "0000-0002-5612-2985", "researcher": {"href": "https://publications.scilifelab.se/researcher/4f27653f5bc6491a88d4336f1b442d3a.json"}}, {"family": "Falorni", "given": "Alberto", "initials": "A"}, {"family": "J\u00f8rgensen", "given": "Anders Palmstr\u00f8m", "initials": "AP", "orcid": "0000-0002-1246-9194", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6e34e97e0e4400f939e3662b19a4075.json"}}, {"family": "Hulting", "given": "Anna-Lena", "initials": "AL"}, {"family": "Svartberg", "given": "Johan", "initials": "J"}, {"family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}}, {"family": "Fougner", "given": "Kristian Johan", "initials": "KJ"}, {"family": "Wahlberg", "given": "Jeanette", "initials": "J"}, {"family": "Nedreb\u00f8", "given": "Bj\u00f8rn Gunnar", "initials": "BG"}, {"family": "Dahlqvist", "given": "Per", "initials": "P", "orcid": "0000-0002-6471-9503", "researcher": {"href": "https://publications.scilifelab.se/researcher/3577b15f446643499c52143174a5e15b.json"}}, {"family": "Norwegian Addison Registry Study Group", "given": "", "initials": ""}, {"family": "Swedish Addison Registry Study Group", "given": "", "initials": ""}, {"family": "Knappskog", "given": "Per Morten", "initials": "PM"}, {"family": "Wolff", "given": "Anette Susanne B\u00f8e", "initials": "ASB"}, {"family": "Bensing", "given": "Sophie", "initials": "S", "orcid": "0000-0002-9193-2860", "researcher": {"href": "https://publications.scilifelab.se/researcher/acae2ad8ca844588b2b850c863034b7b.json"}}, {"family": "Johansson", "given": "Stefan", "initials": "S", "orcid": "0000-0002-2298-7008", "researcher": {"href": "https://publications.scilifelab.se/researcher/1b957ea589b342fb9def8ce13ef3bd7e.json"}}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "Husebye", "given": "Eystein Sverre", "initials": "ES", "orcid": "0000-0002-7886-2976", "researcher": {"href": "https://publications.scilifelab.se/researcher/370273203e0e4734ac49a209ae066ac2.json"}}], "type": "journal article", "published": "2021-02-11", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "12", "issue": "1", "pages": "959", "issn-l": "2041-1723"}, "abstract": "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 \u00d7 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 \u00d7 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).", "doi": "10.1038/s41467-021-21015-8", "pmid": "33574239", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-021-21015-8"}, {"db": "pmc", "key": "PMC7878795"}], "notes": [], "created": "2022-11-09T15:43:58.467Z", "modified": "2024-01-16T13:48:40.734Z"}]}