Show simple item record

dc.contributor.authorEriksson, Daniel
dc.contributor.authorRøyrvik, Ellen Christine
dc.contributor.authorAranda-Guillen, Maribel
dc.contributor.authorBerger, Amund Holte
dc.contributor.authorLandegren, Nils
dc.contributor.authorArtaza, Haydee
dc.contributor.authorHallgren, Åsa
dc.contributor.authorGrytaas, Marianne
dc.contributor.authorStrøm, Sara
dc.contributor.authorBratland, Eirik
dc.contributor.authorBotusan, Ileana
dc.contributor.authorOftedal, Bergithe Eikeland
dc.contributor.authorBreivik, Lars Ertesvåg
dc.contributor.authorVaudel, Marc
dc.contributor.authorHelgeland, Øyvind
dc.contributor.authorFalorni, Alberto
dc.contributor.authorJørgensen, Anders Palmstrøm
dc.contributor.authorHulting, Anna-Lena
dc.contributor.authorSvartberg, Johan
dc.contributor.authorEkwall, Olov
dc.contributor.authorFougner, Kristian J
dc.contributor.authorWahlberg, Jeanette
dc.contributor.authorNedrebø, Bjørn Gunnar
dc.contributor.authorDahlqvist, Per
dc.contributor.authorStudy group, Norwegian Addison Registry
dc.contributor.authorStudy Group, Swedish Addison Registry
dc.contributor.authorKnappskog, Per Morten
dc.contributor.authorWolff, Anette Susanne Bøe
dc.contributor.authorBensing, Sophie
dc.contributor.authorJohansson, Stefan
dc.contributor.authorKämpe, Olof
dc.contributor.authorHusebye, Eystein Sverre
dc.description.abstractAutoimmune 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).en_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.titleGWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibilityen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.rights.holderCopyright 2021 The Authorsen_US
dc.source.journalNature Communicationsen_US
dc.relation.projectNotur/NorStore: NS9658Sen_US
dc.relation.projectHelse Vest RHF: Karrierestipend Anette Wolffen_US
dc.relation.projectStiftelsen Kristian Gerhard Jebsen: KGJ senter for autoimmune sykdommeren_US
dc.identifier.citationNature Communications. 2021, 12 (1), 959.en_US

Files in this item


This item appears in the following Collection(s)

Show simple item record

Navngivelse 4.0 Internasjonal
Except where otherwise noted, this item's license is described as Navngivelse 4.0 Internasjonal