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Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden
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2018 (English)In: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 8, article id 8395Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2018. Vol. 8, article id 8395
National Category
Endocrinology and Diabetes Rheumatology and Autoimmunity
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URN: urn:nbn:se:umu:diva-149017DOI: 10.1038/s41598-018-26842-2ISI: 000433538800022PubMedID: 29849176Scopus ID: 2-s2.0-85047930642OAI: oai:DiVA.org:umu-149017DiVA, id: diva2:1219138
Available from: 2018-06-15 Created: 2018-06-15 Last updated: 2018-06-15Bibliographically approved

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Rantapää-Dahlqvist, SolbrittDahlqvist, Per
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CiteExportLink to record
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