Trait: REM sleep behavior disorder

Experimental Factor Ontology (EFO) Information
Identifier EFO_0007462
Description A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393) [MESH: D020187]
Trait category
Neurological disorder
Synonyms 5 synonyms
  • REM Sleep Behavior Disorder
  • REM sleep behavior disorder
  • Rapid eye movement sleep behavior disorder
  • rapid eye movement sleep behavior disorder
  • rapid eye movement sleep behaviour disorder
Mapped terms 11 mapped terms
  • DOID:9091
  • ICD10CM:G47.52
  • ICD9:327.42
  • ICD9:780.59
  • MEDGEN:199730
  • MESH:D020187
  • MONDO:0005937
  • MeSH:D020187
  • MedDRA:10078725
  • SCTID:415238003
  • UMLS:C0751772

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS003414
(PRS47_RBD)
 PGP000427 |
Krohn L et al. Nat Commun (2022)
 REM sleep behavior disorder REM sleep behavior disorder 47
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003414/ScoringFiles/PGS003414.txt.gz

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
(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 PGS003414
(PRS47_RBD)
 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 PGS003414
(PRS47_RBD)
 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 PGS003414
(PRS47_RBD)
 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 —