Polygenic Score (PGS) ID: PGS003958

Predicted Trait
Reported Trait Alzheimer's disease
Mapped Trait(s) Alzheimer disease (MONDO_0004975)
Released in PGS Catalog: Oct. 17, 2023
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Score Details

Score Construction
PGS Name AD_Unweighted_PRSsum
Development Method
Name Combination of AD_Bellenguez, AD_FINNGEN, AD_Jun, AD_Kunkle_AFR, AD_Kunkle & Lake 2023
Parameters NR
Variants
Original Genome Build NR
Number of Variants 14,109
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000503
Citation (link to publication) Sofer T et al. Alzheimers Res Ther (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 58.3%
Multi-ancestry (including European): 40.8%
  • European
  • African
  • East Asian
  • Hispanic or Latin American
African: 0.8%
East Asian: 0.1%
Greater Middle Eastern: 0.01%
1,579,393 individuals (100%)
PGS Evaluation
Hispanic or Latin American: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST007511
Europe PMC: 30820047
 63,926 individuals European NR
GWAS Catalog: GCST011696
Europe PMC: 33074286
 8,006 individuals African American or Afro-Caribbean NR
GWAS Catalog: GCST90027158
Europe PMC: 35379992
 487,511 individuals European NR
[
  • 7,759 cases
  • , 334,740 controls
]
 European
(Finnish)		 FinnGen
GWAS Catalog: GCST004246
Europe PMC: 28183528
 26,320 individuals European NR
GWAS Catalog: GCST004246
Europe PMC: 28183528
 4,983 individuals African American or Afro-Caribbean NR
GWAS Catalog: GCST004246
Europe PMC: 28183528
 1,845 individuals East Asian NR
GWAS Catalog: GCST004246
Europe PMC: 28183528
 115 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) NR
Europe PMC: 37198259
[
  • 101,061 cases
  • , 543,127 controls
]
 European, African unspecified, East Asian, European, Hispanic or Latin American NR

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
PPM019089 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Mild cognitive impairment OR: 1.28 [1.12, 1.46] — — age at the HCHS/SOL baseline visit, time from HCHS/SOL baseline to the SOL‑INCA visit, sex, study center, 5 principal components, and APOE‑E4 and APOE‑E2 allele counts —
PPM019091 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Cognititve function (SEVLT recall change) β: -0.13 [-0.24, -0.02] — — APOE alleles —
PPM019093 PSS011180|
Hispanic or Latin American Ancestry|
4,189 individuals
 PGP000503 |
Sofer T et al. Alzheimers Res Ther (2023)
 Reported Trait: Cognititve function (G-Factor change) β: -0.04 [-0.06, -0.01] — — — —

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
PSS011180 — — 4,189 individuals Mean = 63.0 years Hispanic or Latin American
(Central American, South American, Mexican, Cuban, Dominican, Puerto-Rican)		 — SOL SOL-INCA: Study of Latinos-Investigation of Neurocognitive Aging