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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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

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)
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Study Identifiers
Sample Numbers
Sample Ancestry
Cohort(s)
—
[
  • 763 cases
  • , 2,557 controls
]
Not reportedNAR, SAR
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Score Development/Training
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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 reportedNAR, SAR—————
Showing 1 to 1 of 1 rows

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.

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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
PPM020281PSS011323|
Ancestry Not Reported|
1,500 individuals
PGP000538 |
Aranda-Guillén M et al. J Intern Med (2023)
Reported Trait: Autoimmune Addison's diseaseOR: 6.4 [5.2, 8.0]AUROC: 0.88———
PPM020282PSS011323|
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 diseaseβ: -3.8 [-4.7, -2.8]————
Showing 1 to 2 of 2 rows

Evaluated Samples

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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—
Showing 1 to 1 of 1 rows