Publication Information (EuropePMC) | |
Title | Validity and Prognostic Value of a Polygenic Risk Score for Parkinson's Disease. |
PubMed ID | 34946808(Europe PMC) |
doi | 10.3390/genes12121859 |
Publication Date | Nov. 23, 2021 |
Journal | Genes (Basel) |
Author(s) | Koch S, Laabs BH, Kasten M, Vollstedt EJ, Becktepe J, Brüggemann N, Franke A, Krämer UM, Kuhlenbäumer G, Lieb W, Mollenhauer B, Neis M, Trenkwalder C, Schäffer E, Usnich T, Wittig M, Klein C, König IR, Lohmann K, Krawczak M, Caliebe A. |
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) |
---|---|---|---|---|---|---|
PGS000903 (PRS1805_PD) |
PGP000235 | Nalls MA et al. Lancet Neurol (2019) |
Parkinson's disease | Parkinson disease | 1,805 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000903/ScoringFiles/PGS000903.txt.gz |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM012831 | PGS000903 (PRS1805_PD) |
PSS009572| European Ancestry| 6,378 individuals |
PGP000281 | Koch S et al. Genes (Basel) (2021) |Ext. |
Reported Trait: Parkinson's disease | — | AUROC: 0.645 [0.63, 0.66] | Nagelkerke’s Pseudo-R2: 0.348 | sex, age and first three PCs | Quality control led to the exclusion of 62 of the original 1805 PD-PRS SNPs |
PPM012832 | PGS000903 (PRS1805_PD) |
PSS009572| European Ancestry| 6,378 individuals |
PGP000281 | Koch S et al. Genes (Basel) (2021) |Ext. |
Reported Trait: Parkinson's disease prognosis | — | — | Sensitivity: 0.581 [0.479, 0.625] Specificity: 0.625 [0.472, 0.725] |
— | Cost of 1: optimal threshold for PD-PRS as determined by maximizing a weighted Youden index = 0.33 |
PPM012833 | PGS000903 (PRS1805_PD) |
PSS009572| European Ancestry| 6,378 individuals |
PGP000281 | Koch S et al. Genes (Basel) (2021) |Ext. |
Reported Trait: Parkinson's disease (age at onset) | — | AUROC: 0.59 [0.551, 0.629] | Nagelkerke’s Pseudo-R2: 0.039 | sex, age and first three PCs | Quality control led to the exclusion of 62 of the original 1805 PD-PRS SNPs |
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 |
---|---|---|---|---|---|---|---|---|
PSS009572 | — | — | [ ,
54.0 % Male samples |
— | European | — | DeNoPa, EPIPARK, KIEL, Other | — |