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Common genetic variation … - University of Gothenburg, Sweden Till startsida
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Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.

Journal article
Authors Daniel Eriksson
Matteo Bianchi
Nils Landegren
Frida Dalin
Jakob Skov
Lina Hultin-Rosenberg
Argyri Mathioudaki
Jessika Nordin
Åsa Hallgren
Göran Andersson
Karolina Tandre
Solbritt Rantapää Dahlqvist
Peter Söderkvist
Lars Rönnblom
Anna-Lena Hulting
Jeanette Wahlberg
Per Dahlqvist
Olov Ekwall
Jennifer R S Meadows
Kerstin Lindblad-Toh
Sophie Bensing
Gerli Rosengren Pielberg
Olle Kämpe
Published in Scientific reports
Volume 8
Issue 1
Pages 8395
ISSN 2045-2322
Publication year 2018
Published at Institute of Medicine, Department of Rheumatology and Inflammation Research
Institute of Clinical Sciences, Department of Pediatrics
Pages 8395
Language en
Subject categories Endocrinology and Diabetes


Autoimmune Addison's disease (AAD) is the predominating cause of primary adrenal failure. Despite its high heritability, the rarity of disease has long made candidate-gene studies the only feasible methodology for genetic studies. Here we conducted a comprehensive reinvestigation of suggested AAD risk loci and more than 1800 candidate genes with associated regulatory elements in 479 patients with AAD and 2394 controls. Our analysis enabled us to replicate many risk variants, but several other previously suggested risk variants failed confirmation. By exploring the full set of 1800 candidate genes, we further identified common variation in the autoimmune regulator (AIRE) as a novel risk locus associated to sporadic AAD in our study. Our findings not only confirm that multiple loci are associated with disease risk, but also show to what extent the multiple risk loci jointly associate to AAD. In total, risk loci discovered to date only explain about 7% of variance in liability to AAD in our study population.

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