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Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addisons disease in Sweden
Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden.
Uppsala Univ, Sweden.
Karolinska Inst, Sweden; Uppsala Univ, Sweden.
Karolinska Inst, Sweden; Uppsala Univ, Sweden.
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2018 (Engelska)Ingår i: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 8, artikel-id 8395Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Autoimmune Addisons 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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NATURE PUBLISHING GROUP , 2018. Vol. 8, artikel-id 8395
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Medicinsk genetik
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URN: urn:nbn:se:liu:diva-148648DOI: 10.1038/s41598-018-26842-2ISI: 000433538800022PubMedID: 29849176OAI: oai:DiVA.org:liu-148648DiVA, id: diva2:1219990
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Funding Agencies|Swedish Research Council; Torsten and Ragnar Soderberg Foundations; European Union Seventh Framework Programme [201167]; Stockholm County Council; Karolinska Institutet; Swedish Society for Medical Research; Swedish Society of Medicine; NovoNordisk Foundation; Tore Nilsons Foundation for Medical Research; Swedish Research Council Formas; Knut and Alice Wallenberg Foundation; Marianne and Marcus Wallenberg Foundation; Swedish Reumatism Foundation; King Gustaf Vs 80-year Foundation; Ake Wiberg Foundation

Tillgänglig från: 2018-06-18 Skapad: 2018-06-18 Senast uppdaterad: 2019-04-24

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