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

Autoimmune Addison’s disease is a rare complex disease, which has not yet been characterized by non-biased genetic studies. Here, the authors perform the first GWAS for the disease, identifying nine loci including two coding variants in the gene Autoimmune Regulator (AIRE).

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Autores principales: Daniel Eriksson, Ellen Christine Røyrvik, Maribel Aranda-Guillén, Amund Holte Berger, Nils Landegren, Haydee Artaza, Åsa Hallgren, Marianne Aardal Grytaas, Sara Ström, Eirik Bratland, Ileana Ruxandra Botusan, Bergithe Eikeland Oftedal, Lars Breivik, Marc Vaudel, Øyvind Helgeland, Alberto Falorni, Anders Palmstrøm Jørgensen, Anna-Lena Hulting, Johan Svartberg, Olov Ekwall, Kristian Johan Fougner, Jeanette Wahlberg, Bjørn Gunnar Nedrebø, Per Dahlqvist, The Norwegian Addison Registry Study Group, The Swedish Addison Registry Study Group, Per Morten Knappskog, Anette Susanne Bøe Wolff, Sophie Bensing, Stefan Johansson, Olle Kämpe, Eystein Sverre Husebye
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/0be85e9204274eff9b1cb72be80b2205
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Sumario:Autoimmune Addison’s disease is a rare complex disease, which has not yet been characterized by non-biased genetic studies. Here, the authors perform the first GWAS for the disease, identifying nine loci including two coding variants in the gene Autoimmune Regulator (AIRE).