PGS Publication: PGP000059

Publication Information (EuropePMC)
Title Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels.
PubMed ID 29141588(Europe PMC)
doi 10.1186/s12883-017-0978-z
Publication Date Nov. 15, 2017
Journal BMC Neurol
Author(s) Ibanez L, Dube U, Saef B, Budde J, Black K, Medvedeva A, Del-Aguila JL, Davis AA, Perlmutter JS, Harari O, Benitez BA, Cruchaga C.
Released in PGS: March 27, 2020

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)
PGS000123 2017_PD16 PGP000059
Ibanez L et al. BMC Neurol (2017)
Parkinson disease Parkinson's disease 16 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000123/ScoringFiles/PGS000123.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
PPM000395 PGS000123 (2017_PD16) PSS000225 PGP000059
Ibanez L et al. (2017)
Reported Trait: Parkinson disease β: 5.84[3.1, 8.59] Association (p-value): 3.45e-05 age at last assessment, sex, 2 PCs of ancestry
PPM000396 PGS000123 (2017_PD16) PSS000225 PGP000059
Ibanez L et al. (2017)
Reported Trait: Age at Onset (Survival) β: 16.62[9.63, 23.61] Association (p-value): 3.19e-06 age at last assessment, sex, 2 PCs of ancestry Cox regression
PPM000397 PGS000123 (2017_PD16) PSS000226 PGP000059
Ibanez L et al. (2017)
Reported Trait: Parkinson disease β: 4.85[2.32, 7.39] Association (p-value): 0.000182 age at last assessment, sex, 2 PCs of ancestry
PPM000398 PGS000123 (2017_PD16) PSS000226 PGP000059
Ibanez L et al. (2017)
Reported Trait: Age at Onset (Survival) β: 9.3[3.59, 15.0] Association (p-value): 0.00141 age at last assessment, sex, 2 PCs of ancestry Cox regression

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000226
[
  • 493 cases
  • , 293 controls
]
,
58.27 % Male samples
European WUSTL Both the PPMI and WUSTL datasets are available by request from the PPMI website (www.ppmi-info.org)
PSS000225
[
  • 334 cases
  • , 135 controls
]
,
55.22 % Male samples
European PPMI Both the PPMI and WUSTL datasets are available by request from the PPMI website (www.ppmi-info.org)