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Common genetic vari...
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Eriksson, DanielKarolinska Institutet,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden
(author)
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden
- Article/chapterEnglish2018
Publisher, publication year, extent ...
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2018-05-30
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Nature Publishing Group,2018
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:oru-109720
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https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-109720URI
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https://doi.org/10.1038/s41598-018-26842-2DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-149017URI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:138412232URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-357556URI
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-148648URI
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https://gup.ub.gu.se/publication/268275URI
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https://res.slu.se/id/publ/95746URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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
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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.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Bianchi, MatteoUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)matbi944
(author)
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Landegren, Nils,1986-Uppsala universitet,Karolinska Institutet,Autoimmunitet,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden,Karolinska Inst, Sweden; Uppsala Univ, Sweden(Swepub:uu)nillan544
(author)
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Dalin, Frida,1984-Uppsala universitet,Dermatologi och venereologi,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden,Karolinska Inst, Sweden; Uppsala Univ, Sweden(Swepub:uu)frida306
(author)
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Skov, JakobKarolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
(author)
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Hultin-Rosenberg, LinaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)linhu641
(author)
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Mathioudaki, ArgyriUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)argma542
(author)
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Nordin, JessikaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)jesno731
(author)
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Hallgren, ÅsaDepartment of Medicine (Solna), Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden
(author)
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Andersson, GöranSwedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics(Swepub:slu)50422
(author)
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Tandre, KarolinaUppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)karotand
(author)
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Rantapää-Dahlqvist, SolbrittUmeå universitet,Avdelningen för medicin,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden(Swepub:umu)sora0001
(author)
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Söderkvist, Peter,1953-Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik(Swepub:liu)petso43
(author)
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Rönnblom, LarsUppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)larsronn
(author)
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Hulting, Anna-LenaKarolinska Institutet,Karolinska Institutet, Sweden
(author)
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Wahlberg, Jeanette,1969-Linköpings universitet,Avdelningen för kardiovaskulär medicin,Institutionen för klinisk och experimentell medicin,Medicinska fakulteten,Region Östergötland, Endokrinmedicinska kliniken(Swepub:liu)jeawa98
(author)
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Dahlqvist, PerUmeå universitet,Avdelningen för medicin,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden(Swepub:umu)perdat96
(author)
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Ekwall, Olov,1968Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Medicine, Department of Rheumatology and Inflammation Research,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xekwol
(author)
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Meadows, JenniferUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)jenme818
(author)
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Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA USA,Uppsala Univ, Sweden; Broad Inst MIT and Harvard, MA USA(Swepub:uu)kerli865
(author)
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Bensing, SophieKarolinska Institutet,Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
(author)
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Pielberg, GerliUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)gepie020
(author)
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Kämpe, OlleKarolinska Institutet,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden;KG Jebsen Ctr Autoimmune Dis, Bergen, Norway
(author)
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Karolinska InstitutetKarolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden
(creator_code:org_t)
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Sveriges lantbruksuniversitet
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In:Scientific Reports: Nature Publishing Group8:12045-2322
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Eriksson, Daniel
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Landegren, Nils, ...
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Dalin, Frida, 19 ...
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Skov, Jakob
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Hultin-Rosenberg ...
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Mathioudaki, Arg ...
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Nordin, Jessika
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Hallgren, Åsa
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Söderkvist, Pete ...
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Hulting, Anna-Le ...
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Wahlberg, Jeanet ...
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Dahlqvist, Per
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Ekwall, Olov, 19 ...
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