PGS Publication: PGP000196

Publication Information (EuropePMC)
Title Polygenic risk scores for Alzheimer's disease are related to dementia risk in APOE ɛ4 negatives.
PubMed ID 33532541(Europe PMC)
doi 10.1002/dad2.12142
Publication Date Jan. 22, 2021
Journal Alzheimers Dement (Amst)
Author(s) Najar J, van der Lee SJ, Joas E, Wetterberg H, Hardy J, Guerreiro R, Bras J, Waern M, Kern S, Zetterberg H, Blennow K, Skoog I, Zettergren A.
Released in PGS Catalog: July 2, 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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PGS Developed 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)
PGS000812
(AD-PRS_57)
 PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
 Alzheimer's disease Alzheimer disease 57
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000812/ScoringFiles/PGS000812.txt.gz
PGS000811
(AD-PRS_39)
 PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
 Alzheimer's disease Alzheimer disease 39
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000811/ScoringFiles/PGS000811.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
PPM002140 PGS000811
(AD-PRS_39)
 PSS001052|
European Ancestry|
2,052 individuals
 PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Incident dementia in APOE ɛ4 non-carriers HR: 1.22 [1.1, 1.35] — — Age at blood sampling, birth year, sex, PCs(1-10) —
PPM002141 PGS000812
(AD-PRS_57)
 PSS001052|
European Ancestry|
2,052 individuals
 PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Incident dementia HR: 1.09 [1.01, 1.19] — — Age at blood sampling, birth year, sex, PCs(1-10) —
PPM002142 PGS000812
(AD-PRS_57)
 PSS001052|
European Ancestry|
2,052 individuals
 PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Incident dementia in APOE ɛ4 non-carriers HR: 1.15 [1.05, 1.27] — — Age at blood sampling, birth year, sex, PCs(1-10) —
PPM002143 PGS000811
(AD-PRS_39)
 PSS001052|
European Ancestry|
2,052 individuals
 PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Incident dementia in APOE ɛ4 non-carriers aged between 70 and 94 HR: 1.16 [1.01, 1.34] — — Age at blood sampling, birth year, sex, PCs(1-10) —
PPM002144 PGS000811
(AD-PRS_39)
 PSS001052|
European Ancestry|
2,052 individuals
 PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Incident dementia in APOE ɛ4 non-carriers aged 95 years or above HR: 1.28 [1.1, 1.5] — — Age at blood sampling, birth year, sex, PCs(1-10) —
PPM002145 PGS000811
(AD-PRS_39)
 PSS001052|
European Ancestry|
2,052 individuals
 PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Incident dementia in APOE ɛ4 carriers aged 95 years or above HR: 0.62 [0.41, 0.95] — — Age at blood sampling, birth year, sex, PCs(1-10) —
PPM002146 PGS000812
(AD-PRS_57)
 PSS001052|
European Ancestry|
2,052 individuals
 PGP000196 |
Najar J et al. Alzheimers Dement (Amst) (2021)
 Reported Trait: Incident dementia in individuals aged 95 or above HR: 1.15 [1.01, 1.32] — — Age at blood sampling, birth year, sex, PCs(1-10) —

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
PSS001052 The diagnosis of dementia at each examination was based on Diagnostic and Statistical Manual of Mental Disorders Third Edition‐Revised (DSM‐III‐R) criteria, using information from neuropsychiatric examinations and close informant interviews. Dementia diagnoses for individuals lost to follow‐up were based on information obtained from the Swedish Inpatient Registry until 2012. Age of dementia onset was based on information provided by close informants, the examinations, and the Swedish Inpatient Register. If no information could be obtained from these sources, the age of onset was determined as the mid‐point between the last examination at which dementia criteria were not fulfilled and the first with a dementia diagnosis. Information on deaths during follow‐up was obtained from the Swedish Population Registry until December 31, 2016. Of the 605 dementia cases, 182 were carriers of an APOE ɛ4 allele. Mean = 7.2 years
Sd = 4.7 years
[
  • 605 cases
  • , 1,447 controls
]
 European — NR Gothenburg H70 Birth Cohort studies