Polygenic Score (PGS) ID: PGS004239

Predicted Trait
Reported Trait Autoimmune Addison's disease
Mapped Trait(s) chronic primary adrenal insufficiency (MONDO_0015129)
Released in PGS Catalog: Dec. 15, 2023
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Score Details

Score Construction
PGS Name PRS14AAD
Development Method
Name PRSice-2
Parameters r2>0.1, p<=1E-04 for HLA risk, p<=1E-07 for non-HLA risk
Variants
Original Genome Build NR
Number of Variants 14
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000538
Citation (link to publication) Aranda-Guillén M et al. J Intern Med (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Not Reported: 100%
3,320 individuals (100%)
Score Development/Training
Not Reported: 100%
500 individuals (100%)
PGS Evaluation
Not Reported: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
—
[
  • 763 cases
  • , 2,557 controls
]
 Not reported NAR, SAR
Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
—
[
  • 120 cases
  • , 380 controls
]
 Not reported NAR, SAR — — — — —

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) 		PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM020281 PSS011323|
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 PSS011323|
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
(PSS) 		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
PSS011323 — —
[
  • 340 cases
  • , 1,160 controls
]
 — Not reported — NAR, SAR —