Polygenic Score (PGS) ID: PGS000811

Predicted Trait
Reported Trait Alzheimer's disease
Mapped Trait(s) Alzheimer disease (MONDO_0004975)
Released in PGS Catalog: July 2, 2021
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Score Details

Score Construction
PGS Name AD-PRS_39
Development Method
Name Genome-wide significant variants
Parameters p < 5e-8
Variants
Original Genome Build GRCh37
Number of Variants 39
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000196
Citation (link to publication) Najar J et al. Alzheimers Dement (Amst) (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
644,112 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 10.1101/19012021
[
  • 36,675 cases
  • , 58,482 controls
]
,
41.01 % Male samples
 European ADGC, CHARGE, EADI, GERAD, PERADES
Europe PMC: 10.1101/19012021
[
  • 42,034 cases
  • , 506,921 controls
]
,
47.41 % Male samples
 European UKB

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) 		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 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) —
PPM002143 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 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 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) —

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