PGS Publication: PGP000207

Publication Information (EuropePMC)
Title The effect of APOE and other common genetic variants on the onset of Alzheimer's disease and dementia: a community-based cohort study.
PubMed ID 29555425(Europe PMC)
doi 10.1016/s1474-4422(18)30053-x
Publication Date March 16, 2018
Journal Lancet Neurol
Author(s) van der Lee SJ, Wolters FJ, Ikram MK, Hofman A, Ikram MA, Amin N, van Duijn CM.
Released in PGS Catalog: July 29, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000823
(GRS23_AD)
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Alzheimer's disease Alzheimer's disease 23
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000823/ScoringFiles/PGS000823.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
PPM002216 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident dementia at age 85 in individuals homozygous for APOE ε4 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 0.00022 Mortality
PPM002215 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident Alzheimer's disease at age 80 in individuals homozygous for APOE ε4 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 0.0056 Non-Alzheimer’s disease dementia, mortality
PPM002217 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident Alzheimer's disease at age 85 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 7.90e-14 Non-Alzheimer’s disease dementia, mortality
PPM002218 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident dementia at age 90 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 5.20e-13 Mortality
PPM002214 PGS000823
(GRS23_AD)
PSS001080|
European Ancestry|
12,255 individuals
PGP000207 |
van der Lee SJ et al. Lancet Neurol (2018)
Reported Trait: Incident Alzheimer's disease at age 85 in individuals homozygous for APOE ε4 Cumulative risk p-value (top 33.3% vs bottom 33.3%): 0.0085 Non-Alzheimer’s disease dementia, mortality

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
PSS001080 Cases included incident Alzheimer's disease (AD) and other types of incident dementia. Of the 1,609 dementia cases, 1,262 were individuals with AD and 347 were individuals with other types of dementia excluding AD. A consensus panel led by a consultant neurologist established the final diagnosis according to standard criteria for dementia (Diagnostic and Statistical Manual of Mental Disorders III-revised) and Alzheimer’s disease (National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer’s Disease and Related Disorders Association). Of the total 12,255 individuals, APOE genotypes were available for 11,375. From those genotyped, 261 individuals were homozygous for APOE ε4 (ε4/ε4). Of the 261 ε4/ε4 individuals, 72 had AD whilst 11 had other types of dementia excluding AD. Median = 10.9 years
[
  • 1,609 cases
  • , 10,646 controls
]
,
41.5 % Male samples
European
(Dutch)
RS