Polygenic Score (PGS) ID: PGS000750

Predicted Trait
Reported Trait Parkinson's disease
Mapped Trait(s) Parkinson disease (MONDO_0005180)
Released in PGS Catalog: March 22, 2021
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Score Details

Score Construction
PGS Name PRS_43
Development Method
Name Genome-wide significant variants
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 43
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000155
Citation (link to publication) Bobbili DR et al. J Med Genet (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
417,508 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • Not Reported
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST004902
Europe PMC: 28892059
 417,508 individuals European NR

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
PPM001904 PSS000952|
Multi-ancestry (including European)|
486 individuals
 PGP000155 |
Bobbili DR et al. J Med Genet (2020)
 Reported Trait: Parkinson's disease — AUROC: 0.703 [0.698, 0.708] — Sex, singleton loss of function variant count, Parkinson's disease family history. Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit
PPM001905 PSS000952|
Multi-ancestry (including European)|
486 individuals
 PGP000155 |
Bobbili DR et al. J Med Genet (2020)
 Reported Trait: Parkinson's disease — AUROC: 0.653 [0.647, 0.659] — Sex, singleton loss of function variant count. Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit
PPM001906 PSS000952|
Multi-ancestry (including European)|
486 individuals
 PGP000155 |
Bobbili DR et al. J Med Genet (2020)
 Reported Trait: Parkinson's disease — AUROC: 0.616 [0.611, 0.621] — Sex Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit

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
PSS000952 Cases are individuals with sporadic Parkinson's disease. —
[
  • 340 cases
  • , 146 controls
]
 — European, NR European, Not reported PPMI —