PGS Publication: PGP000250

Publication Information (EuropePMC)
Title Polygenic Risk Scores in a Prospective Parkinson's Disease Cohort.
PubMed ID 34402545(Europe PMC)
doi 10.1002/mds.28761
Publication Date Aug. 17, 2021
Journal Mov Disord
Author(s) Sia MW, Foo JN, Saffari SE, Wong AS, Khor CC, Yuan JM, Tan EK, Koh WP, Tan LC.
Released in PGS Catalog: Nov. 4, 2021

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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Not Reported

PGS Developed 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)
PGS001353
(PRS6_PD)
 PGP000250 |
Sia MW et al. Mov Disord (2021)
 Parkinson's disease Parkinson disease 6
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001353/ScoringFiles/PGS001353.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
PPM005177 PGS001353
(PRS6_PD)
 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
(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
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 —