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A polygenic risk sc...
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.
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- Aranda-Guillén, Maribel (author)
- Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
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- Røyrvik, Ellen Christine (author)
- Univ Bergen, Dept Clin Sci, Bergen, Norway.;KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway.;Norwegian Inst Publ Hlth, Dept Genet & Bioinformat, Oslo, Norway.
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- Fletcher-Sandersjöö, Sara (author)
- Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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- Artaza, Haydee (author)
- Univ Bergen, Dept Clin Sci, Bergen, Norway.
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- Botusan, Ileana Ruxandra (author)
- Karolinska Institutet,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Endocrinol, Stockholm, Sweden.
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- Grytaas, Marianne A (author)
- Haukeland Hosp, Dept Med, Bergen, Norway.
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- Hallgren, Åsa (author)
- Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
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- Breivik, Lars (author)
- Univ Bergen, Dept Clin Sci, Bergen, Norway.
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- Pettersson, Maria (author)
- Karolinska Institutet
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- Jørgensen, Anders P (author)
- Oslo Univ Hosp, Sect Specialized Endocrinol, Oslo, Norway.
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- Lindstrand, Anna (author)
- Karolinska Institutet,Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.
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- Vogt, Elinor (author)
- Univ Bergen, Dept Clin Sci, Bergen, Norway.
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- Ekwall, Olov, 1968 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institutionen för medicin, avdelningen för reumatologi och inflammationsforskning,Institute of Clinical Sciences, Department of Pediatrics,Institute of Medicine, Department of Rheumatology and Inflammation Research
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- Husebye, Eystein S (author)
- Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.
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- Kämpe, Olle (author)
- Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway.
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- Wolff, Anette S Bøe (author)
- KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway.
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- Bensing, Sophie (author)
- Karolinska Institutet
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- Johansson, Stefan (author)
- Haukeland Hosp, Dept Med Genet, Bergen, Norway.
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- Eriksson, Daniel (author)
- Uppsala universitet,Karolinska Institutet,Institutionen för immunologi, genetik och patologi,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden
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Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden Univ Bergen, Dept Clin Sci, Bergen, Norway.;KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway.;Norwegian Inst Publ Hlth, Dept Genet & Bioinformat, Oslo, Norway. (creator_code:org_t)
- John Wiley & Sons, 2023
- 2023
- English.
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In: Journal of internal medicine. - : John Wiley & Sons. - 0954-6820 .- 1365-2796. ; 294:1, s. 96-109
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Abstract
Subject headings
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- Autoimmune Addison's disease (AAD) is the most common cause of primary adrenal insufficiency (PAI). Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients are lacking. We hypothesized that polygenic risk score (PRS) for AAD could help investigate PAI pathogenesis in pediatric patients.We here constructed and evaluated a PRS for AAD in 1223 seropositive cases and 4097 controls. To test its clinical utility, we reevaluated 18 pediatric patients, whose whole genome we also sequenced. We next explored the individual PRS in more than 120 seronegative patients with idiopathic PAI.The genetic susceptibility to AAD-quantified using PRS-was on average 1.5 standard deviations (SD) higher in patients compared with healthy controls (p<2e-16), and 1.2 SD higher in the young patients compared with the old (p=3e-4). Using the novel PRS, we searched for pediatric patients with strikingly low AAD susceptibility and identified cases of monogenic PAI, previously misdiagnosed as AAD. By stratifying seronegative adult patients by autoimmune comorbidities and disease duration we could delineate subgroups of PRS suggesting various disease etiologies.The PRS performed well for case-control differentiation and susceptibility estimation in individual patients. Remarkably, a PRS for AAD holds promise as a means to detect disease etiologies other than autoimmunity.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Immunologi inom det medicinska området (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Immunology in the medical area (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
Keyword
- Adult
- Humans
- Child
- Addison Disease
- Autoantibodies
- Autoimmunity
- Risk Factors
- Genetic Predisposition to Disease
- Addison's disease
Publication and Content Type
- ref (subject category)
- art (subject category)
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Aranda-Guillén, ...
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Røyrvik, Ellen C ...
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Fletcher-Sanders ...
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Artaza, Haydee
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Botusan, Ileana ...
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Grytaas, Mariann ...
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Hallgren, Åsa
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Breivik, Lars
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Pettersson, Mari ...
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Jørgensen, Ander ...
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Lindstrand, Anna
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Vogt, Elinor
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Ekwall, Olov, 19 ...
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Husebye, Eystein ...
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Kämpe, Olle
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Wolff, Anette S ...
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Bensing, Sophie
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Johansson, Stefa ...
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Eriksson, Daniel
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University of Gothenburg
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Karolinska Institutet
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