Polygenic Score (PGS) ID: PGS001353

Predicted Trait
Reported Trait Parkinson's disease
Mapped Trait(s) Parkinson disease (MONDO_0005180)
Released in PGS Catalog: Nov. 4, 2021
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Score Details

Score Construction
Development Method
Name 4 Genome-wide significant SNPs, 2 Asian specific risk variants
Parameters NR
Original Genome Build NR
Number of Variants 6
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000250
Citation (link to publication) Sia MW et al. Mov Disord (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
East Asian: 100%
31,575 individuals (100%)
PGS Evaluation
Additional Asian Ancestries: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST010049
Europe PMC: 32310270
31,575 individuals East Asian 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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM005177 PSS003601|
Additional Asian Ancestries|
25,646 individuals
PGP000250 |
Sia MW et al. Mov Disord (2021)
Reported Trait: Parkinson's disease C-index: 0.63 [0.6, 0.66] Hazard Ratio (HR, top 33.3% vs bottom 33.3%): 1.81 [1.37, 2.39]
Hazard Ratio (HR, top 33.3% vs middle 33.3%): 1.35 [1.0, 1.83]
Age of recruitment, year of interview (1993-1995, 1996-1998), dialect group (Cantonese, Hokkien), level of education (no formal education, primary school, secondary school or higher), body mass index (<20, 20-<24, 24-<28, 28+ kg/m2)

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
PSS003601 Cases were individuals with Parkinson's disease (PD). PD cases were identified from three different sources: (1) participants were asked in a follow-up interview if they had ever been informed by a physician to have PD and, if yes, the age at which the diagnosis was ascertained, (2) all diagnoses containing the International Classification of Diseases, Ninth Revision code 332 (PD) from 1990 to 2018 in public and private hospitals were identified via a computer-assisted record linkage analysis of the cohort database with the nationwide hospital discharge database, (3) record linkage of the cohort database with three public hospital–based PD registries in Singapore through July 31, 2018, was carried out via database linkage. All identified cases were reviewed to confirm that the diagnosis was primary PD according to the criteria defined by the Advisory Council of the USA National Institute of Neurological Disorders and Stroke.
  • 333 cases
  • , 25,313 controls
45.32 % Male samples
Asian unspecified SCHS