| Predicted Trait | |
| Reported Trait | Parkinson's disease |
| Mapped Trait(s) | Parkinson disease (MONDO_0005180) |
| Score Construction | |
| PGS Name | PD_PRS |
| Development Method | |
| Name | Genome-wide significant variants |
| Parameters | NR |
| Variants | |
| Original Genome Build | hg38 |
| Number of Variants | 23 |
| Effect Weight Type | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000041 |
| Citation (link to publication) | Paul KC et al. JAMA Neurol (2018) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 100% 108,990 individuals (100%) |
| PGS Evaluation | European: 100% 1 Sample Sets |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
GWAS Catalog: GCST002544 Europe PMC: 25064009 |
108,990 individuals | European | NR |
|
PGS Performance Metric ID (PPM) |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM000142 | PSS000088| European Ancestry| 285 individuals |
PGP000041 | Paul KC et al. JAMA Neurol (2018) |
Reported Trait: Motor decline (time to UPDRS III 20-point increase | HR: 1.42 [1.0, 2.01] | — | — | sex, age at diagnosis | — |
| PPM000143 | PSS000088| European Ancestry| 285 individuals |
PGP000041 | Paul KC et al. JAMA Neurol (2018) |
Reported Trait: Motor decline (time to H&Y Scale stage ≥ 3) | HR: 1.34 [1.0, 1.79] | — | — | sex, age at diagnosis | — |
| PPM000141 | PSS000088| European Ancestry| 285 individuals |
PGP000041 | Paul KC et al. JAMA Neurol (2018) |
Reported Trait: Cognitive decline (time to MMSE 4-point decrease) | HR: 1.44 [1.0, 2.07] | — | — | sex, age at diagnosis | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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 |
[ ,
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 |