Polygenic Score (PGS) ID: PGS000056

Predicted Trait
Reported Trait Parkinson Disease
Mapped Trait(s) Parkinson's disease (EFO_0002508)
Released in PGS Catalog: Dec. 18, 2019
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Score Details

Score Construction
Original Genome Build hg38
Number of Variants 23
Development Method
Name Genome-wide significant SNPs
Parameters NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000041
Citation (link to publication) Paul KC et al. JAMA Neurol (2018)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST002544
EuropePMC: 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
PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000141 PSS000088 PGP000041 Paul KC et al. (2018) Reported Trait: Cognitive decline (time to MMSE 4-point decrease) HR: 1.44 [1.0, 2.07] sex, age at diagnosis
PPM000142 PSS000088 PGP000041 Paul KC et al. (2018) Reported Trait: Motor decline (time to UPDRS III 20-point increase HR: 1.42 [1.0, 2.01] sex, age at diagnosis
PPM000143 PSS000088 PGP000041 Paul KC et al. (2018) Reported Trait: Motor decline (time to H&Y Scale stage ≥ 3) HR: 1.34 [1.0, 1.79] sex, age at diagnosis

Evaluated Samples

PGS Sample Set ID
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
PSS000088 Parkinson Disease symptom progression was assessed during 1 to 3 follow-up examinations by a movement disorder team (June 1, 2007, to August 31, 2013; mean [SD] time from disease onset, 7.3 [2.8] years) using the following methods: - Cognitive decline was determined with the Mini-Mental State Examination (MMSE; range, 0-30, with lower scores indicating worse cognitive function). Cognitive decline was defined as a 4-point decrease from baseline MMSE score and time to event as the time from the baseline to follow-up examinations in which a 4-point decrease was first measured - Motor decline was defined as a 20-point increase in Unified Parkinson’s Disease Rating Scale part III (UPDRS-III) score, and time to event as the time from the baseline to follow-up examinations in which a 20-point increase was first measured. - Motor decline was also measured by assessing conversion to stage 3 or higher of the Hoehn & Yahr (H&Y) scale. Time to conversion to H&Y stage 3 was defined as the time from the baseline to first follow-up examinations in which the patient scored at least stage 3. Mean = 5.3 years
Sd = 2.1 years
  • 285 cases
  • , 0 controls
56.14 % Male samples
Mean = 69.1 years
Sd = 10.4 years
European PEG Patients with idiopathic PD diagnosed less than 3 years previously were recruited from June 1, 2001, through November 31, 2007. Patients were confirmed as having clinically probable or possible Parkinson Disease by a team of movement disorder specialists