| Publication Information (EuropePMC) | |
| Title | Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease. |
| PubMed ID | 33958783(Europe PMC) |
| doi | 10.1038/s41588-021-00847-6 |
| Publication Date | May 6, 2021 |
| Journal | Nat Genet |
| Author(s) | Liu G, Peng J, Liao Z, Locascio JJ, Corvol JC, Zhu F, Dong X, Maple-Grødem J, Campbell MC, Elbaz A, Lesage S, Brice A, Mangone G, Growdon JH, Hung AY, Schwarzschild MA, Hayes MT, Wills AM, Herrington TM, Ravina B, Shoulson I, Taba P, Kõks S, Beach TG, Cormier-Dequaire F, Alves G, Tysnes OB, Perlmutter JS, Heutink P, Amr SS, van Hilten JJ, Kasten M, Mollenhauer B, Trenkwalder C, Klein C, Barker RA, Williams-Gray CH, Marinus J, International Genetics of Parkinson Disease Progression (IGPP) Consortium, Scherzer CR. |
| 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) |
|---|---|---|---|---|---|---|
| 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 |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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) | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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 | — |