Sökning: WFRF:(Johansson Anders 1968 ) > (2020-2024) > A polygenic risk sc...
Fältnamn | Indikatorer | Metadata |
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000 | 06594naa a2200733 4500 | |
001 | oai:gup.ub.gu.se/331648 | |
003 | SwePub | |
008 | 240528s2023 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:152700117 | |
009 | oai:DiVA.org:uu-507921 | |
024 | 7 | a https://gup.ub.gu.se/publication/3316482 URI |
024 | 7 | a https://doi.org/10.1111/joim.136492 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1527001172 URI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5079212 URI |
040 | a (SwePub)gud (SwePub)kid (SwePub)uu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Aranda-Guillén, Maribelu Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.4 aut |
245 | 1 0 | a A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies. |
264 | 1 | b John Wiley & Sons,c 2023 |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Immunologi inom det medicinska området0 (SwePub)301102 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Immunology in the medical area0 (SwePub)301102 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 hsv//eng |
653 | a Adult | |
653 | a Humans | |
653 | a Child | |
653 | a Addison Disease | |
653 | a Autoantibodies | |
653 | a Autoimmunity | |
653 | a Risk Factors | |
653 | a Genetic Predisposition to Disease | |
653 | a Addison's disease | |
700 | 1 | a Røyrvik, Ellen Christineu Univ Bergen, Dept Clin Sci, Bergen, Norway.;KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway.;Norwegian Inst Publ Hlth, Dept Genet & Bioinformat, Oslo, Norway.4 aut |
700 | 1 | a Fletcher-Sandersjöö, Sarau Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.4 aut |
700 | 1 | a Artaza, Haydeeu Univ Bergen, Dept Clin Sci, Bergen, Norway.4 aut |
700 | 1 | a Botusan, Ileana Ruxandrau Karolinska Institutet,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Endocrinol, Stockholm, Sweden.4 aut |
700 | 1 | a Grytaas, Marianne Au Haukeland Hosp, Dept Med, Bergen, Norway.4 aut |
700 | 1 | a Hallgren, Åsau Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.4 aut |
700 | 1 | a Breivik, Larsu Univ Bergen, Dept Clin Sci, Bergen, Norway.4 aut |
700 | 1 | a Pettersson, Mariau Karolinska Institutet4 aut |
700 | 1 | a Jørgensen, Anders Pu Oslo Univ Hosp, Sect Specialized Endocrinol, Oslo, Norway.4 aut |
700 | 1 | a Lindstrand, Annau Karolinska Institutet,Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.4 aut |
700 | 1 | a Vogt, Elinoru Univ Bergen, Dept Clin Sci, Bergen, Norway.4 aut |
700 | 1 | a Ekwall, Olov,d 1968u 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 Research4 aut0 (Swepub:gu)xekwol |
700 | 1 | a Husebye, Eystein Su Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.4 aut |
700 | 1 | a Kämpe, Olleu Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway.4 aut |
700 | 1 | a Wolff, Anette S Bøeu KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway.4 aut |
700 | 1 | a Bensing, Sophieu Karolinska Institutet4 aut |
700 | 1 | a Johansson, Stefanu Haukeland Hosp, Dept Med Genet, Bergen, Norway.4 aut |
700 | 1 | a Eriksson, Danielu Uppsala universitet,Karolinska Institutet,Institutionen för immunologi, genetik och patologi,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden4 aut0 (Swepub:uu)daner854 |
710 | 2 | a Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.b Univ Bergen, Dept Clin Sci, Bergen, Norway.;KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway.;Norwegian Inst Publ Hlth, Dept Genet & Bioinformat, Oslo, Norway.4 org |
773 | 0 | t Journal of internal medicined : John Wiley & Sonsg 294:1, s. 96-109q 294:1<96-109x 0954-6820x 1365-2796 |
856 | 4 | u https://doi.org/10.1111/joim.13649y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1782857/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 8 | u https://gup.ub.gu.se/publication/331648 |
856 | 4 8 | u https://doi.org/10.1111/joim.13649 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:152700117 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-507921 |
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