Polygenic Score (PGS) ID: PGS004606

Predicted Trait
Reported Trait Age-related macular degeneration
Mapped Trait(s) age-related macular degeneration (EFO_0001365)
Released in PGS Catalog: Feb. 20, 2024
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Score Details

Score Construction
PGS Name AMD-IAMDGC-EUR
Development Method
Name PRS-CS
Parameters phi=1e-4, LD panel: UKBB EUR
Variants
Original Genome Build GRCh37
Number of Variants 1,000,946
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000582
Citation (link to publication) Gorman BR et al. Nat Genet (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
33,976 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST003219
Europe PMC: 26691988
 33,976 individuals European IAMDGC

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
PPM020767 PSS011398|
European Ancestry|
163,011 individuals
 PGP000582 |
Gorman BR et al. Nat Genet (2024)
 Reported Trait: Age-related macular degeneration OR: 1.76 [1.73, 1.78] AUROC: 0.71 — age, sex, principal components 1-10 —

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
PSS011398 ICD-9-CM codes 362.51 or 362.52; ICD-10-CM codes H35.31 or H35.32 —
[
  • 32,567 cases
  • , 130,444 controls
]
,
97.0 % Male samples
 — European — MVP —