{"entity": "researcher", "timestamp": "2026-09-30T02:26:58.118Z", "family": "Bensing", "given": "Sophie", "initials": "S", "orcid": "0000-0002-9193-2860", "affiliations": ["Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.", "Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/48943597c79f4c529f3f0f4b7e0e7a91.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/48943597c79f4c529f3f0f4b7e0e7a91"}}, "publications": [{"entity": "publication", "iuid": "5bf7a44e0d7e4ca39535e27aa2866df8", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/5bf7a44e0d7e4ca39535e27aa2866df8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/5bf7a44e0d7e4ca39535e27aa2866df8"}}, "title": "Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.", "authors": [{"family": "Lundtoft", "given": "Christian", "initials": "C", "orcid": "0000-0001-5872-4253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f22eef009e944f069fe779e7f3cb2eff.json"}}, {"family": "Eriksson", "given": "Daniel", "initials": "D"}, {"family": "Bianchi", "given": "Matteo", "initials": "M"}, {"family": "Aranda-Guill\u00e9n", "given": "Maribel", "initials": "M"}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1c8c4d669b3942309a148980c1437b5d.json"}}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS"}, {"family": "DISSECT Consortium\n", "given": "", "initials": ""}, {"family": "ImmunoArray Consortium\n", "given": "", "initials": ""}, {"family": "Swedish Addison Registry Study Group\n", "given": "", "initials": ""}, {"family": "Bensing", "given": "Sophie", "initials": "S", "orcid": "0000-0002-9193-2860", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48943597c79f4c529f3f0f4b7e0e7a91.json"}}, {"family": "Pielberg", "given": "Gerli Rosengren", "initials": "GR"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L"}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48f52710708f4b3291e5b5a4eefca8f5.json"}}], "type": "journal article", "published": "2023-08-02", "journal": {"title": "Eur. J. Endocrinol.", "issn": "1479-683X", "volume": "189", "issue": "2", "pages": "235-241", "issn-l": "0804-4643"}, "abstract": "Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid 21-hydroxylase is encoded by CYP21A2, which is located in the human leucocyte antigen (HLA) region together with the highly similar pseudogene CYP21A1P. A high level of copy number variation is seen for the 2 genes, and therefore, we asked whether genetic variation of the CYP21 genes is associated with AAD.\n\nCase-control study on patients with AAD and healthy controls.\n\nUsing next-generation DNA sequencing, we estimated the copy number of CYP21A2 and CYP21A1P, together with HLA alleles, in 479 Swedish patients with AAD and autoantibodies against 21-hydroxylase and in 1393 healthy controls.\n\nWith 95% of individuals carrying 2 functional 21-hydroxylase genes, no difference in CYP21A2 copy number was found when comparing patients and controls. In contrast, we discovered a lower copy number of the pseudogene CYP21A1P among AAD patients (P = 5 \u00d7 10-44), together with associations of additional nucleotide variants, in the CYP21 region. However, the strongest association was found for HLA-DQB1*02:01 (P = 9 \u00d7 10-63), which, in combination with the DRB1*04:04-DQB1*03:02 haplotype, imposed the greatest risk of AAD.\n\nWe identified strong associations between copy number variants in the CYP21 region and risk of AAD, although these associations most likely are due to linkage disequilibrium with disease-associated HLA class II alleles.", "doi": "10.1093/ejendo/lvad102", "pmid": "37553728", "labels": [], "xrefs": [{"db": "pii", "key": "7239340"}], "notes": [], "created": "2026-09-23T13:35:28.518Z", "modified": "2026-09-23T13:35:28.556Z"}, {"entity": "publication", "iuid": "4c36fc62e06e43b886ebd54a26c226ad", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4c36fc62e06e43b886ebd54a26c226ad.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4c36fc62e06e43b886ebd54a26c226ad"}}, "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-affiliated.scilifelab.se/researcher/b8847907a59147cf95d312afa115a3d3.json"}}, {"family": "R\u00f8yrvik", "given": "Ellen Christine", "initials": "EC", "orcid": "0000-0002-8979-1704", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0f06bc51bfdb4011afd5cbced35d4c16.json"}}, {"family": "Aranda-Guill\u00e9n", "given": "Maribel", "initials": "M", "orcid": "0000-0003-0050-704X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1c0c18f520e34593865f7ed850f34a17.json"}}, {"family": "Berger", "given": "Amund Holte", "initials": "AH", "orcid": "0000-0001-6973-2048", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ca5b7e2f31ec4001acf69c7e0605b550.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Artaza", "given": "Haydee", "initials": "H", "orcid": "0000-0002-1585-5488", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7bec00863032451da763fe3e82e53003.json"}}, {"family": "Hallgren", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Grytaas", "given": "Marianne Aardal", "initials": "MA", "orcid": "0000-0001-9016-628X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/655680560b814d009ad4ff7ce226898f.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-affiliated.scilifelab.se/researcher/01780742fc204de3aef6c867c4689277.json"}}, {"family": "Vaudel", "given": "Marc", "initials": "M", "orcid": "0000-0003-1179-9578", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2596035e48ab48c6a100c6ef81757b4f.json"}}, {"family": "Helgeland", "given": "\u00d8yvind", "initials": "\u00d8", "orcid": "0000-0002-5612-2985", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6a7fee768af24b28b4431a7547864842.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-affiliated.scilifelab.se/researcher/bc5ad03de219408f8d8c71309d7e9466.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-affiliated.scilifelab.se/researcher/eab7f16bfd5f42fab025afc23b79d395.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-affiliated.scilifelab.se/researcher/47c69bcb5cf147879083cfd43c73a82c.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-affiliated.scilifelab.se/researcher/48943597c79f4c529f3f0f4b7e0e7a91.json"}}, {"family": "Johansson", "given": "Stefan", "initials": "S", "orcid": "0000-0002-2298-7008", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0e5286d7375241e685d8eab789a3c1de.json"}}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48f52710708f4b3291e5b5a4eefca8f5.json"}}, {"family": "Husebye", "given": "Eystein Sverre", "initials": "ES", "orcid": "0000-0002-7886-2976", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/25a232814bce442386c8efac9398ea98.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": [], "xrefs": [{"db": "pmc", "key": "PMC7878795"}, {"db": "pii", "key": "10.1038/s41467-021-21015-8"}], "notes": [], "created": "2026-09-23T07:49:59.120Z", "modified": "2026-09-23T07:49:59.462Z"}]}