Polygenic Score (PGS) ID: PGS003414

Predicted Trait
Reported Trait REM sleep behavior disorder
Mapped Trait(s) REM sleep behavior disorder (EFO_0007462)
Released in PGS Catalog: Feb. 8, 2023
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Score Details

Score Construction
PGS Name PRS47_RBD
Development Method
Name PRSice-2
Parameters R2 > 0.1
Variants
Original Genome Build hg19
Number of Variants 47
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000427
Citation (link to publication) Krohn L et al. Nat Commun (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
142,479 individuals (100%)
PGS Evaluation
European: 100%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90244078
Europe PMC: 36470867
142,479 individuals European 23andMe, WTCCC

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
PPM017064 PSS010109|
European Ancestry|
1,477 individuals
PGP000427 |
Krohn L et al. Nat Commun (2022)
Reported Trait: Isolated REM sleep behavior disorder AUROC: 0.614 [0.575, 0.654]
PPM017065 PSS010110|
European Ancestry|
1,192 individuals
PGP000427 |
Krohn L et al. Nat Commun (2022)
Reported Trait: Probabable REM sleep behavior disorder (with Parkinson disease) AUROC: 0.597 [0.56, 0.634]
PPM017066 PSS010111|
European Ancestry|
1,124 individuals
PGP000427 |
Krohn L et al. Nat Commun (2022)
Reported Trait: Probabable REM sleep behavior disorder AUROC: 0.548 [0.505, 0.59]

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
PSS010109
[
  • 212 cases
  • , 1,265 controls
]
European 23andMe, WTCCC
PSS010110
[
  • 285 cases
  • , 907 controls
]
European 23andMe, WTCCC
PSS010111
[
  • 217 cases
  • , 907 controls
]
European 23andMe, WTCCC