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 Catalog: March 27, 2020

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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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)
PGS000123
(2017_PD16)
 PGP000059 |
Ibanez L et al. BMC Neurol (2017)
 Parkinson's disease Parkinson disease 16
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000123/ScoringFiles/PGS000123.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
PPM000398 PGS000123
(2017_PD16)
 PSS000226|
European Ancestry|
786 individuals
 PGP000059 |
Ibanez L et al. BMC Neurol (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
PPM000396 PGS000123
(2017_PD16)
 PSS000225|
European Ancestry|
469 individuals
 PGP000059 |
Ibanez L et al. BMC Neurol (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|
European Ancestry|
786 individuals
 PGP000059 |
Ibanez L et al. BMC Neurol (2017)
 Reported Trait: Parkinson disease β: 4.85 [2.32, 7.39] — Association (p-value): 0.00018 age at last assessment, sex, 2 PCs of ancestry —
PPM000395 PGS000123
(2017_PD16)
 PSS000225|
European Ancestry|
469 individuals
 PGP000059 |
Ibanez L et al. BMC Neurol (2017)
 Reported Trait: Parkinson disease β: 5.84 [3.1, 8.59] — Association (p-value): 3e-05 age at last assessment, sex, 2 PCs of ancestry —

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
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)