| 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. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000056 (PD_PRS) |
PGP000041 | Paul KC et al. JAMA Neurol (2018) |
Parkinson's disease | Parkinson disease | 23 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000056/ScoringFiles/PGS000056.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM000142 | PGS000056 (PD_PRS) |
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 | PGS000056 (PD_PRS) |
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 | PGS000056 (PD_PRS) |
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 |