PGS Publication: PGP000538

Publication Information (EuropePMC)
Title A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.
PubMed ID 37151110(Europe PMC)
doi 10.1111/joim.13649
Publication Date May 21, 2023
Journal J Intern Med
Author(s) Aranda-Guillén M, Røyrvik EC, Fletcher-Sandersjöö S, Artaza H, Botusan IR, Grytaas MA, Hallgren Å, Breivik L, Pettersson M, Jørgensen AP, Lindstrand A, Vogt E, Norwegian Addison Registry Study Group, The Swedish Addison Registry Study Group, Husebye ES, Kämpe O, Wolff ASB, Bensing S, Johansson S, Eriksson D.
Released in PGS Catalog: Dec. 15, 2023

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
Scoring File (FTP Link)
PGP000538 |
Aranda-Guillén M et al. J Intern Med (2023)
Autoimmune Addison's disease chronic primary adrenal insufficiency 14

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM020281 PGS004239
Ancestry Not Reported|
1,500 individuals
PGP000538 |
Aranda-Guillén M et al. J Intern Med (2023)
Reported Trait: Autoimmune Addison's disease OR: 6.4 [5.2, 8.0] AUROC: 0.88
PPM020282 PGS004239
Ancestry Not Reported|
1,500 individuals
PGP000538 |
Aranda-Guillén M et al. J Intern Med (2023)
Reported Trait: Age of onset of autoimmune Addison's disease β: -3.8 [-4.7, -2.8]

Evaluated Samples

PGS Sample Set ID
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
  • 340 cases
  • , 1,160 controls
Not reported NAR, SAR