PGS Publication: PGP000427

Publication Information (EuropePMC)
Title Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
PubMed ID 36470867(Europe PMC)
doi 10.1038/s41467-022-34732-5
Publication Date Dec. 5, 2022
Journal Nat Commun
Author(s) Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Ibrahim A, Šonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, 23andMe Research Team, Scholz SW, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls MA, Singleton AB, Rouleau GA, Postuma RB, Gan-Or Z.
Released in PGS Catalog: Feb. 8, 2023

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

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 —