PGS Publication: PGP000041

Publication Information (EuropePMC)
Title Association of Polygenic Risk Score With Cognitive Decline and Motor Progression in Parkinson Disease.
PubMed ID 29340614(Europe PMC)
doi 10.1001/jamaneurol.2017.4206
Publication Date March 1, 2018
Journal JAMA Neurol
Author(s) Paul KC, Schulz J, Bronstein JM, Lill CM, Ritz BR.
Released in PGS: Dec. 18, 2019

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000056 PD_PRS PGP000041
Paul KC et al. JAMA Neurol (2018)
Parkinson Disease Parkinson's disease 23 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000056/ScoringFiles/PGS000056.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS 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
PPM000143 PGS000056 (PD_PRS) 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
PPM000142 PGS000056 (PD_PRS) 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
PPM000141 PGS000056 (PD_PRS) 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

Evaluated Samples

PGS Sample Set ID
(PSS 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