Polygenic Score (PGS) ID: PGS000211

Predicted Trait
Reported Trait Parkinson's disease
Mapped Trait(s) Parkinson's disease (EFO_0002508)
Released in PGS Catalog: July 1, 2020
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Score Details

Score Construction
PGS Name PD19
Variants
Original Genome Build NR
Number of Variants 19
Development Method
Name GWAS-significant variants
Parameters Replicated variants
PGS Source
PGS Catalog Publication (PGP) ID PGP000087
Citation (link to publication) Pihlstrøm L et al. Mov Disord (2016)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
108,990 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002544
Europe PMC: 25064009
108,990 individuals European

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
PPM000648 PSS000358|
European Ancestry|
336 individuals
PGP000087 |
Pihlstrøm L et al. Mov Disord (2016)
Reported Trait: Motor decline (time to Hoehn & Yahr ≥ 3) HR: 1.29 [1.06, 1.56] sex, age at diagnosis

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
PSS000358 UPDRS motor severity was estimated as a mean value acrosseach patient’s recordings, relative to the rest of the data Mean = 5946.0 days
Sd = 2299.0 days
Range = [1574.0, 13992.0] days
[
  • 336 cases
  • , 0 controls
]
,
66.0 % Male samples
Range = [35.0, 85.0] years European Testing dataset genotyped as part of a larger study of a total of 1380 patients with idiopathic PD and 1295 control subjects by 5 collaborating groups in Norway and Sweden. (https://www.sciencedirect.com/science/article/abs/pii/S0197458012005301?showall%3Dtrue%26via%3Dihub)