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Common genetic vari...
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden
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- Eriksson, Daniel (author)
- Karolinska Institutet,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden;Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden
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- Bianchi, Matteo (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Landegren, Nils, 1986- (author)
- 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
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- Dalin, Frida, 1984- (author)
- 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
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- Skov, Jakob (author)
- Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
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- Hultin-Rosenberg, Lina (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Mathioudaki, Argyri (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Nordin, Jessika (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Hallgren, Åsa (author)
- Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden,Karolinska Inst, Dept Med Solna, Ctr Mol Med, Stockholm, Sweden
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- Andersson, Göran (author)
- Swedish University of Agricultural Sciences,Sveriges lantbruksuniversitet,Institutionen för husdjursgenetik (HGEN),Department of Animal Breeding and Genetics
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- Tandre, Karolina (author)
- Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Rantapää-Dahlqvist, Solbritt (author)
- Umeå universitet,Avdelningen för medicin,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden
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- Söderkvist, Peter, 1953- (author)
- Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik
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- Rönnblom, Lars (author)
- Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Hulting, Anna-Lena (author)
- Karolinska Institutet,Karolinska Institutet, Sweden
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- Wahlberg, Jeanette, 1969- (author)
- Linköpings universitet,Avdelningen för kardiovaskulär medicin,Institutionen för klinisk och experimentell medicin,Medicinska fakulteten,Region Östergötland, Endokrinmedicinska kliniken
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- Dahlqvist, Per (author)
- Umeå universitet,Avdelningen för medicin,Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden
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- Ekwall, Olov, 1968 (author)
- Gothenburg 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
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- Meadows, Jennifer (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Lindblad-Toh, Kerstin (author)
- Uppsala 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
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- Bensing, Sophie (author)
- Karolinska Institutet,Karolinska Univ Hosp, Dept Endocrinol Metab & Diabet, Stockholm, Sweden;Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
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- Pielberg, Gerli (author)
- Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden
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- Kämpe, Olle (author)
- Karolinska 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
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(creator_code:org_t)
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- 2018-05-30
- 2018
- English.
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In: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 8:1
- Related links:
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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http://kipublication...
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Abstract
Subject headings
Close
- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Eriksson, Daniel
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Bianchi, Matteo
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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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Andersson, Göran
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Tandre, Karolina
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Rantapää-Dahlqvi ...
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Söderkvist, Pete ...
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Rönnblom, Lars
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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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Meadows, Jennife ...
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Lindblad-Toh, Ke ...
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Bensing, Sophie
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Pielberg, Gerli
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Kämpe, Olle
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Rheumatology and ...
- Articles in the publication
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Scientific Repor ...
- By the university
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Örebro University
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Umeå University
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Karolinska Institutet
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Uppsala University
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Linköping University
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University of Gothenburg
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Swedish University of Agricultural Sciences
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