PGS Publication: PGP000479

Publication Information (EuropePMC)
Title Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease.
PubMed ID 36869417(Europe PMC)
doi 10.1002/mds.29342
Publication Date March 3, 2023
Journal Mov Disord
Author(s) Blauwendraat C, Tayebi N, Woo EG, Lopez G, Fierro L, Toffoli M, Limbachiya N, Hughes D, Pitz V, Patel D, Vitale D, Koretsky MJ, Hernandez D, Real R, Alcalay RN, Nalls MA, Morris HR, Schapira AHV, Balwani M, Sidransky E.
Released in PGS Catalog: Aug. 4, 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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Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated 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)
PGS000902
(PRS90_PD)
 PGP000235 |
Nalls MA et al. Lancet Neurol (2019)
 Parkinson's disease Parkinson disease 90
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000902/ScoringFiles/PGS000902.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
PPM018547 PGS000902
(PRS90_PD)
 PSS011016|
Multi-ancestry (including European)|
3,427 individuals
 PGP000479 |
Blauwendraat C et al. Mov Disord (2023)
|Ext.		 Reported Trait: Parkinson's disease OR: 1.575 [1.444, 1.717]
β: 0.4541 (0.0443)		 — — — 85 of 90 variants of PGS000902 was used excluding full GBA1 region, and two additional variants (chr10:119776815:G:A and chr19:2341049:C:T)
PPM018548 PGS000902
(PRS90_PD)
 PSS011017|
Multi-ancestry (including European)|
225 individuals
 PGP000479 |
Blauwendraat C et al. Mov Disord (2023)
|Ext.		 Reported Trait: Parkinson's disease with Gaucher Disease OR: 1.687 [1.099, 2.589]
β: 0.5228 (0.2186)		 — — — 85 of 90 variants of PGS000902 was used excluding full GBA1 region, and two additional variants (chr10:119776815:G:A and chr19:2341049:C:T)

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
PSS011016 — —
[
  • 335 cases
  • , 109 controls
]
 — Other
(Ashkenazi Jewish)		 — NR —
PSS011016 — —
[
  • 2,050 cases
  • , 933 controls
]
 — European — NR —
PSS011017 — —
[
  • 18 cases
  • , 134 controls
]
 — Other
(Ashkenazi Jewish)		 — NR —
PSS011017 — —
[
  • 8 cases
  • , 65 controls
]
 — European — NR —