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  • Aranda-Guillén, MaribelKarolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden. (author)

A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.

  • Article/chapterEnglish2023

Publisher, publication year, extent ...

  • John Wiley & Sons,2023

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/331648
  • https://gup.ub.gu.se/publication/331648URI
  • https://doi.org/10.1111/joim.13649DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:152700117URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-507921URI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Røyrvik, Ellen ChristineUniv Bergen, Dept Clin Sci, Bergen, Norway.;KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway.;Norwegian Inst Publ Hlth, Dept Genet & Bioinformat, Oslo, Norway. (author)
  • Fletcher-Sandersjöö, SaraKarolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden. (author)
  • Artaza, HaydeeUniv Bergen, Dept Clin Sci, Bergen, Norway. (author)
  • Botusan, Ileana RuxandraKarolinska Institutet,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Endocrinol, Stockholm, Sweden. (author)
  • Grytaas, Marianne AHaukeland Hosp, Dept Med, Bergen, Norway. (author)
  • Hallgren, ÅsaKarolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden. (author)
  • Breivik, LarsUniv Bergen, Dept Clin Sci, Bergen, Norway. (author)
  • Pettersson, MariaKarolinska Institutet (author)
  • Jørgensen, Anders POslo Univ Hosp, Sect Specialized Endocrinol, Oslo, Norway. (author)
  • Lindstrand, AnnaKarolinska Institutet,Karolinska Inst, Ctr Mol Med, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden. (author)
  • Vogt, ElinorUniv Bergen, Dept Clin Sci, Bergen, Norway. (author)
  • Ekwall, Olov,1968Gothenburg 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(Swepub:gu)xekwol (author)
  • Husebye, Eystein SKarolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden. (author)
  • Kämpe, OlleKarolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden.;KG Jebsen Ctr Autoimmune Disorders, Bergen, Norway. (author)
  • Wolff, Anette S BøeKG Jebsen Ctr Autoimmune Disorders, Bergen, Norway. (author)
  • Bensing, SophieKarolinska Institutet (author)
  • Johansson, StefanHaukeland Hosp, Dept Med Genet, Bergen, Norway. (author)
  • Eriksson, DanielUppsala universitet,Karolinska Institutet,Institutionen för immunologi, genetik och patologi,Karolinska Inst, Ctr Mol Med, Dept Med Solna, Stockholm, Sweden(Swepub:uu)daner854 (author)
  • 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)

Related titles

  • In:Journal of internal medicine: John Wiley & Sons294:1, s. 96-1090954-68201365-2796

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