PGS Publication: PGP000340

Publication Information (EuropePMC)
Title Assessment of a polygenic hazard score for the onset of pre-clinical Alzheimer's disease.
PubMed ID 35619096(Europe PMC)
doi 10.1186/s12864-022-08617-2
Publication Date May 26, 2022
Journal BMC Genomics
Author(s) Vacher M, Doré V, Porter T, Milicic L, Villemagne VL, Bourgeat P, Burnham SC, Cox T, Masters CL, Rowe CC, Fripp J, Doecke JD, Laws SM.
Released in PGS Catalog: July 21, 2022

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:
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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

External PGS Evaluated By This Publication

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)
PGS000026
(PHS)
 PGP000016 |
Desikan RS et al. PLoS Med (2017)
 Alzheimer's disease Alzheimer disease 31
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000026/ScoringFiles/PGS000026.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
PPM014811 PGS000026
(PHS)
 PSS009898|
Ancestry Not Reported|
780 individuals
 PGP000340 |
Vacher M et al. BMC Genomics (2022)
|Ext.		 Reported Trait: Aβ-amyloid deposition in neocortical region β: 19.98 [14.3, 25.7] — — — —
PPM014812 PGS000026
(PHS)
 PSS009898|
Ancestry Not Reported|
780 individuals
 PGP000340 |
Vacher M et al. BMC Genomics (2022)
|Ext.		 Reported Trait: Aβ-amyloid deposition in posterior cingulate region β: 25.54 [18.4, 32.6] — — — —
PPM014814 PGS000026
(PHS)
 PSS009900|
Ancestry Not Reported|
278 individuals
 PGP000340 |
Vacher M et al. BMC Genomics (2022)
|Ext.		 Reported Trait: Aβ-amyloid deposition in neocortical region (in APOE E4 carriers) β: 25.28 [17.4, 33.2] — — — —
PPM014815 PGS000026
(PHS)
 PSS009900|
Ancestry Not Reported|
278 individuals
 PGP000340 |
Vacher M et al. BMC Genomics (2022)
|Ext.		 Reported Trait: Aβ-amyloid deposition in posterior cingulate region (in APOE E4 carriers) β: 33.06 [23.3, 42.8] — — — —
PPM014816 PGS000026
(PHS)
 PSS009900|
Ancestry Not Reported|
278 individuals
 PGP000340 |
Vacher M et al. BMC Genomics (2022)
|Ext.		 Reported Trait: Aβ-amyloid deposition in frontal cortex region (in APOE E4 carriers) β: 26.63 [18.0, 35.3] — — — —
PPM014817 PGS000026
(PHS)
 PSS009899|
Ancestry Not Reported|
502 individuals
 PGP000340 |
Vacher M et al. BMC Genomics (2022)
|Ext.		 Reported Trait: Aβ-amyloid deposition in neocortical region (in APOE E4 non-carriers) β: 12.61 [3.9, 21.3] — — — —
PPM014818 PGS000026
(PHS)
 PSS009899|
Ancestry Not Reported|
502 individuals
 PGP000340 |
Vacher M et al. BMC Genomics (2022)
|Ext.		 Reported Trait: Aβ-amyloid deposition in posterior cingulate region (in APOE E4 non-carriers) β: 14.28 [3.42, 25.1] — — — —
PPM014819 PGS000026
(PHS)
 PSS009899|
Ancestry Not Reported|
502 individuals
 PGP000340 |
Vacher M et al. BMC Genomics (2022)
|Ext.		 Reported Trait: Aβ-amyloid deposition in frontal cortex region (in APOE E4 non-carriers) β: 13.62 [4.24, 23.0] — — — —
PPM014813 PGS000026
(PHS)
 PSS009898|
Ancestry Not Reported|
780 individuals
 PGP000340 |
Vacher M et al. BMC Genomics (2022)
|Ext.		 Reported Trait: Aβ-amyloid deposition in frontal cortex region β: 21.19 [15.0, 27.4] — — — —

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
PSS009899 CN/MCI/AD: [412/66/24] — 502 individuals — Not reported — NR AIBL
PSS009900 CN/MCI/AD: [161/58/59] — 278 individuals — Not reported — NR AIBL
PSS009898 CN/MCI/AD: [573/124/83] — 780 individuals — Not reported — NR AIBL