Trait: Parkinson disease

Trait Information
Identifier MONDO_0005180
Description A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. [NCIT: P378]
Trait category
Neurological disorder
Synonyms 3 synonyms
  • Parkinson disease
  • Parkinson's disease
  • paralysis agitans
Mapped terms 11 mapped terms
  • DOID:14330
  • EFO:0002508
  • ICD9:332
  • ICD9:332.0
  • MESH:D010300
  • NCIT:C26845
  • NIFSTD:birnlex_2098
  • OMIMPS:168600
  • Orphanet:319705
  • SCTID:49049000
  • UMLS:C0030567

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution 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
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
PGS000211
(PD19)
PGP000087 |
Pihlstrøm L et al. Mov Disord (2016)
Parkinson's disease Parkinson disease 19
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000211/ScoringFiles/PGS000211.txt.gz
PGS000750
(PRS_43)
PGP000155 |
Bobbili DR et al. J Med Genet (2020)
Parkinson's disease Parkinson disease 43
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000750/ScoringFiles/PGS000750.txt.gz
PGS000777
(PHS3_PDD)
PGP000181 |
Liu G et al. Nat Genet (2021)
Parkinson's disease dementia cognitive decline measurement,
Parkinson disease
3
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000777/ScoringFiles/PGS000777.txt.gz
PGS000902
(PRS90_PD)
PGP000235 |
Nalls MA et al. Lancet Neurol (2019)
Parkinson's disease Parkinson disease 90
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000902/ScoringFiles/PGS000902.txt.gz
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
PGS001353
(PRS6_PD)
PGP000250 |
Sia MW et al. Mov Disord (2021)
Parkinson's disease Parkinson disease 6
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001353/ScoringFiles/PGS001353.txt.gz
PGS001774
(PRS12_PD)
PGP000254 |
Chairta PP et al. Genes (Basel) (2021)
Parkinson's disease Parkinson disease 12
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001774/ScoringFiles/PGS001774.txt.gz
PGS003763
(PRS44_PD)
PGP000486 |
Zheng Z et al. JAMA Neurol (2023)
Parkinson's disease Parkinson disease 44
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003763/ScoringFiles/PGS003763.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
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
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
PPM000648 PGS000211
(PD19)
PSS000358|
European Ancestry|
336 individuals
PGP000087 |
Pihlstrøm L et al. Mov Disord (2016)
Reported Trait: Motor decline (time to Hoehn & Yahr ≥ 3) HR: 1.29 [1.06, 1.56] sex, age at diagnosis
PPM001904 PGS000750
(PRS_43)
PSS000952|
Multi-ancestry (including European)|
486 individuals
PGP000155 |
Bobbili DR et al. J Med Genet (2020)
Reported Trait: Parkinson's disease AUROC: 0.703 [0.698, 0.708] Sex, singleton loss of function variant count, Parkinson's disease family history. Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit
PPM001905 PGS000750
(PRS_43)
PSS000952|
Multi-ancestry (including European)|
486 individuals
PGP000155 |
Bobbili DR et al. J Med Genet (2020)
Reported Trait: Parkinson's disease AUROC: 0.653 [0.647, 0.659] Sex, singleton loss of function variant count. Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit
PPM001906 PGS000750
(PRS_43)
PSS000952|
Multi-ancestry (including European)|
486 individuals
PGP000155 |
Bobbili DR et al. J Med Genet (2020)
Reported Trait: Parkinson's disease AUROC: 0.616 [0.611, 0.621] Sex Mean AUROC over 1000 repetitions on test sets randomly drawn with a 0.9 training-test pslit
PPM002014 PGS000777
(PHS3_PDD)
PSS000997|
Multi-ancestry (including European)|
404 individuals
PGP000181 |
Liu G et al. Nat Genet (2021)
Reported Trait: Parkinson's disease dementia HR: 2.05 [1.16, 3.61] AUROC: 0.688 [0.519, 0.817] Hazard's Ratio (HR, top 25% vs PHS of 0): 3.2 [1.26, 8.11] Age at Parkinson's disease onset, sex, years of education, PCs(1-10), study cohort, genetic factors (genes: GBA, APOE ε4)
PPM002665 PGS000902
(PRS90_PD)
PSS001174|
Multi-ancestry (including European)|
999 individuals
PGP000235 |
Nalls MA et al. Lancet Neurol (2019)
Reported Trait: Parkinson's disease AUROC: 0.651 [0.617, 0.684] PCs(1-5), age, sex Only 88 SNPs from the 90 SNP PRS were utilised. 2 SNPs were not included as they failed to pass quality control in the HBS cohort.
PPM018174 PGS000902
(PRS90_PD)
PSS010943|
Ancestry Not Reported|
986 individuals
PGP000458 |
Pavelka L et al. NPJ Parkinsons Dis (2022)
|Ext.
Reported Trait: Age at onset of parkinson disease Correlation: -0.11
PPM018547 PGS000902
(PRS90_PD)
PSS011016|
Multi-ancestry (including European)|
3,427 individuals
PGP000479 |
Blauwendraat C et al. Mov Disord (2023)
|Ext.
Reported Trait: Parkinson's disease OR: 1.575 [1.444, 1.717]
β: 0.4541 (0.0443)
85 of 90 variants of PGS000902 was used excluding full GBA1 region, and two additional variants (chr10:119776815:G:A and chr19:2341049:C:T)
PPM018548 PGS000902
(PRS90_PD)
PSS011017|
Multi-ancestry (including European)|
225 individuals
PGP000479 |
Blauwendraat C et al. Mov Disord (2023)
|Ext.
Reported Trait: Parkinson's disease with Gaucher Disease OR: 1.687 [1.099, 2.589]
β: 0.5228 (0.2186)
85 of 90 variants of PGS000902 was used excluding full GBA1 region, and two additional variants (chr10:119776815:G:A and chr19:2341049:C:T)
PPM002664 PGS000903
(PRS1805_PD)
PSS001174|
Multi-ancestry (including European)|
999 individuals
PGP000235 |
Nalls MA et al. Lancet Neurol (2019)
Reported Trait: Parkinson's disease β: 0.709 (0.072) AUROC: 0.692 : 0.054
Odds Ratio (OR, top 25% vs bottom 25%): 6.25 [4.26, 9.28]
PCs(1-5), age, sex
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
PPM014928 PGS000903
(PRS1805_PD)
PSS009933|
South Asian Ancestry|
90 individuals
PGP000360 |
Kukkle PL et al. Adv Biol (Weinh) (2022)
|Ext.
Reported Trait: Young onset Parkinson’s disease Odds ratio, OR (high vs low risk): 1.92
PPM005177 PGS001353
(PRS6_PD)
PSS003601|
Additional Asian Ancestries|
25,646 individuals
PGP000250 |
Sia MW et al. Mov Disord (2021)
Reported Trait: Parkinson's disease C-index: 0.63 [0.6, 0.66] Hazard Ratio (HR, top 33.3% vs bottom 33.3%): 1.81 [1.37, 2.39]
Hazard Ratio (HR, top 33.3% vs middle 33.3%): 1.35 [1.0, 1.83]
Age of recruitment, year of interview (1993-1995, 1996-1998), dialect group (Cantonese, Hokkien), level of education (no formal education, primary school, secondary school or higher), body mass index (<20, 20-<24, 24-<28, 28+ kg/m2)
PPM009233 PGS001774
(PRS12_PD)
PSS007662|
European Ancestry|
699 individuals
PGP000254 |
Chairta PP et al. Genes (Basel) (2021)
Reported Trait: Parkinson's disease OR: 1.39 [1.06, 1.84] AUROC: 0.55 Prior to imputation of missing data
PPM009234 PGS001774
(PRS12_PD)
PSS007662|
European Ancestry|
699 individuals
PGP000254 |
Chairta PP et al. Genes (Basel) (2021)
Reported Trait: Parkinson's disease AUROC: 0.79 [0.75, 0.83] Age, gender, head injury, family history of Parkinson's disease, depression, smoking (current or ever), body mass index Prior to imputation of missing data
PPM009235 PGS001774
(PRS12_PD)
PSS007662|
European Ancestry|
699 individuals
PGP000254 |
Chairta PP et al. Genes (Basel) (2021)
Reported Trait: Parkinson's disease OR: 1.39 [1.06, 1.83] AUROC: 0.55 Following imputation of missing data
PPM009236 PGS001774
(PRS12_PD)
PSS007662|
European Ancestry|
699 individuals
PGP000254 |
Chairta PP et al. Genes (Basel) (2021)
Reported Trait: Parkinson's disease AUROC: 0.8 [0.77, 0.84] Age, gender, head injury, family history of Parkinson's disease, depression, smoking (current or ever), body mass index Following imputation of missing data
PPM018563 PGS003763
(PRS44_PD)
PSS011026|
European Ancestry|
314,998 individuals
PGP000486 |
Zheng Z et al. JAMA Neurol (2023)
Reported Trait: Incident Parkinson Disease Hazard ratio (HR, high vs low tertile): 1.72 [1.54, 1.93] genotyping array and the first 10 principal components of ancestry
PPM018564 PGS003763
(PRS44_PD)
PSS011026|
European Ancestry|
314,998 individuals
PGP000486 |
Zheng Z et al. JAMA Neurol (2023)
Reported Trait: Incident Parkinson Disease with frailty Hazard ratio (HR, high vs low tertile): 3.22 [2.35, 4.41] age, sex, Townsend deprivation index, assessment centers, alcohol consumption, smoking status, BMI, the number of long-term morbidities, genotyping array, and the first 10 principal components of ancestry long-term morbidities, genotyping array, and the first 10 principal components 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)
PSS010943
[
  • 430 cases
  • , 556 controls
]
Not reported NR Luxembourg Parkinson's Study
PSS000997 All individuals had Parkinsons' disease. Dementia was defined by the following criteria for each cohort. DeNoPa: Dementia was defined using operationalized level 1 MDS dementia criteria. These criteria required 1, an MMSE< 26; 2, cognitive deficits severe enough to impact daily living (MDS-UPDRS sub-score I item 1, Cognitive impairment score ≥ 2 indicating ‘Dementia has impact on active daily living scale’); 3, impairment in at least two cognitive domains operationalized as impairment in two of the following four tasks: ≤ 3 of 5 points in the MMSE Seven backward test (attention); abnormal clock drawing test (executive dysfunction); subscore = 0 in the MMSE Pentagons (visuo-constructive ability); and ≤ 2 of 3 points in the 3-Word Recall of the MMSE (memory performance). A Geriatric Depression Scale-15 (GDS-15) score <10 was used to indicate the absence of severe depression. EPIPARK: Dementia was defined using operationalized level 1 MDS dementia criteria. These criteria required 1, a Montreal Cognitive Assessment (MoCA) score < 2127; 2, cognitive deficits severe enough to impact daily living (UPDRS sub-score I item 1, Intellectual impairment score ≥ 2 indicating ‘Dementia has impact on active daily living scale’); 3, impairment in at least two cognitive domains operationalized as impairment in two of the following four tasks: ≤ 2 of 3 points in the MoCA serial seven subtraction test; 0 points in the MoCA language fluency test item (language); ≤ 4 of 5 points in the word recall of the MoCA (delayed recall); ≤ 4 of 5 on the MoCA visuospatial/executive test. A Beck Depression Inventory (BDI) score ≤30 was used to indicate the absence of severe depression. HBS: Dementia was defined using operationalized level 1 MDS dementia criteria. These criteria required 1, an MMSE < 26; 2, cognitive deficits severe enough to impact daily living (UPDRS sub-score I item 1, Intellectual impairment score ≥ 2 indicating ‘Dementia has impact on active daily living scale’); 3, impairment in at least two cognitive domains operationalized as impairment in two of the following four tasks: ≤ 3 of 5 points in the MMSE Seven backward test (attention); abnormal clock drawing test (executive dysfunction); subscore = 0 in the MMSE Pentagons (visuo-constructive ability); and ≤ 2 of 3 points in the 3-Word Recall of the MMSE (memory performance). A Geriatric Depression Scale-15 (GDS-15) score <10 was used to indicate the absence of severe depression. 404 individuals European, NR DeNoPa, EPIPARK, HBS
PSS011026 314,998 individuals,
49.1 % Male samples
Mean = 56.1 years European UKB
PSS007662 Cases were individuals with Parkinson's disease (PD). All cases were recruited in the study after a clinical diagnosis of PD.
[
  • 235 cases
  • , 464 controls
]
,
51.36 % Male samples
European NR
PSS000358 UPDRS motor severity was estimated as a mean value acrosseach patient’s recordings, relative to the rest of the data Mean = 5946.0 days
Sd = 2299.0 days
Range = [1574.0, 13992.0] days
[
  • 336 cases
  • , 0 controls
]
,
66.0 % Male samples
Range = [35.0, 85.0] years European NR Testing dataset genotyped as part of a larger study of a total of 1380 patients with idiopathic PD and 1295 control subjects by 5 collaborating groups in Norway and Sweden. (https://www.sciencedirect.com/science/article/abs/pii/S0197458012005301?showall%3Dtrue%26via%3Dihub)
PSS009572
[
  • 1,914 cases
  • , 4,464 controls
]
,
54.0 % Male samples
European DeNoPa, EPIPARK, KIEL, Other
PSS003601 Cases were individuals with Parkinson's disease (PD). PD cases were identified from three different sources: (1) participants were asked in a follow-up interview if they had ever been informed by a physician to have PD and, if yes, the age at which the diagnosis was ascertained, (2) all diagnoses containing the International Classification of Diseases, Ninth Revision code 332 (PD) from 1990 to 2018 in public and private hospitals were identified via a computer-assisted record linkage analysis of the cohort database with the nationwide hospital discharge database, (3) record linkage of the cohort database with three public hospital–based PD registries in Singapore through July 31, 2018, was carried out via database linkage. All identified cases were reviewed to confirm that the diagnosis was primary PD according to the criteria defined by the Advisory Council of the USA National Institute of Neurological Disorders and Stroke.
[
  • 333 cases
  • , 25,313 controls
]
,
45.32 % Male samples
Asian unspecified SCHS
PSS000952 Cases are individuals with sporadic Parkinson's disease.
[
  • 340 cases
  • , 146 controls
]
European, NR European, Not reported PPMI
PSS001174 Cases were individuals with Parkinson's disease (PD). Cases were defined using the standard UK Brain Bank criteria with a modification to allow the inclusion of cases that had a family history of PD.
[
  • 527 cases
  • , 472 controls
]
,
52.75 % Male samples
European, NR HBS Sample overlap between this dataset and the dataset used to source SNPs for PRS90_PD.
PSS011016
[
  • 335 cases
  • , 109 controls
]
Other
(Ashkenazi Jewish)
NR
PSS011016
[
  • 2,050 cases
  • , 933 controls
]
European NR
PSS011017
[
  • 18 cases
  • , 134 controls
]
Other
(Ashkenazi Jewish)
NR
PSS011017
[
  • 8 cases
  • , 65 controls
]
European NR
PSS009933 90 individuals,
71.0 % Male samples
Mean = 36.0 years South Asian
(Indian)
NR
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
[
  • 285 cases
  • , 0 controls
]
,
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
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)