Polygenic Score (PGS) ID: PGS002249

Predicted Trait
Reported Trait Alzheimer's disease
Mapped Trait(s) Alzheimer disease (MONDO_0004975)
Released in PGS Catalog: Jan. 24, 2022
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Terms and Licenses
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Score Details

Score Construction
PGS Name AD_PRS_0.5
Development Method
Name LD clumping
Parameters p<0.50
Variants
Original Genome Build NR
Number of Variants 249,273
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000276
Citation (link to publication) Lourida I et al. JAMA (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
55,134 individuals (100%)
PGS Evaluation
European: 100%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST002245
Europe PMC: 24162737
 55,134 individuals European 19 cohorts
  • ACT
  • ,ADC
  • ,ADNI
  • ,AGES
  • ,CHS
  • ,EADI
  • ,FHS
  • ,GERAD
  • ,GSK
  • ,LOAD
  • ,MAYO
  • ,MIRAGE
  • ,OHSU
  • ,ROSMAP
  • ,RS
  • ,TGEN
  • ,UMVUMSS
  • ,UPITT
  • ,WASHU

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
PPM012797 PSS009559|
European Ancestry|
196,383 individuals
 PGP000276 |
Lourida I et al. JAMA (2019)
 Reported Trait: Incident dementia — — Hazard Ratio (HR, high vs. low genetic risk): 1.91 [1.64, 2.23] Age, sex, education, socioeconomic status, relatedness, number of alleles, weighted lifestyle categories —
PPM012798 PSS009559|
European Ancestry|
196,383 individuals
 PGP000276 |
Lourida I et al. JAMA (2019)
 Reported Trait: Incident dementia in individuals with high genetic risk — — Incidence (%): 1.23 [1.13, 1.35]
Incidence (%, individuals with unfavourable lifestyle): 1.78 [1.38, 2.28]
Incidence (%, individuals with favourable lifestyle): 1.13 [1.01, 1.26]		 — —
PPM020316 PSS011330|
European Ancestry|
196,368 individuals
 PGP000543 |
Klee M et al. Am J Prev Med (2023)
|Ext.		 Reported Trait: Incident dementia with area-level socioeconomic deprivation — — Hazard ratio (HR, high deprivation and PRS in top quintile vs. low-moderate deprivation and PRS in bottom quintile): 2.31 [1.84, 2.91] 20 first PCs, third-degree relatedness, number of alleles used to compute PRS, age, sex, education, marital status, healthy lifestyle, depressive symptoms in the last 2 weeks, individual-level deprivation —
PPM020317 PSS011330|
European Ancestry|
196,368 individuals
 PGP000543 |
Klee M et al. Am J Prev Med (2023)
|Ext.		 Reported Trait: Incident dementia with individual-level socioeconomic deprivation — — Hazard ratio (HR, high deprivation and PRS in top quintile vs. low-moderate deprivation and PRS in bottom quintile): 4.06 [2.63, 6.26] 20 first PCs, third-degree relatedness, number of alleles used to compute PRS, age, sex, education, marital status, healthy lifestyle, depressive symptoms in the last 2 weeks, area-level deprivation —
PPM020431 PSS011359|
European Ancestry|
60,298 individuals
 PGP000556 |
Shannon OM et al. BMC Med (2023)
|Ext.		 Reported Trait: Dementia — — Hazard ratio (HR, top vs bottom PRS quintile): 1.224 [1.102, 1.36] — —
PPM020432 PSS011359|
European Ancestry|
60,298 individuals
 PGP000556 |
Shannon OM et al. BMC Med (2023)
|Ext.		 Reported Trait: Dementia x MedDiet adherence (MEDAS score) interaction HR: 1.042 [1.003, 1.082] — — — —

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
PSS011359 Alzheimer's (ICD10: F00, F00.0, F00.1, F00.2, F00.9, G30, G30.0, G30.1, G30.8, G30.9), Vascular dementia (ICD10: F01, F01.0, F01.1, F01.2, F01.3, F01.8, F01.9, I67.3), Frontotemporal dementia (ICD10: F02.0, G31.0), all-cause dementia (ICD10: A81.0, F02, F02.1, F02.2, F02.3, F02.4, F02.8, F03, F05.1, F10.6, G31.1, G31.8) Mean = 9.1 years
Sd = 1.7 years		 60,298 individuals,
51.5 % Male samples
 Mean = 63.8 years
Sd = 2.7 years		 European — UKB —
PSS009559 AD: F00, F00.0, F00.1, F00.2, F00.9, G30, G30.0, G30.1, G30.8, G30.9 VaD: F01, F01.0, F01.1, F01.2, F01.3, F01.8, F01.9, I67.3 FTD: F02.0, G31.0, Other codes for all-cause dementia: A81.0, F02, F02.1, F02.2, F02.3, F02.4, F02.8, F03, F05.1, F10.6, G31.1, G31.8 Median = 8.0 years
[
  • 1,769 cases
  • , 194,614 controls
]
,
47.3 % Male samples
 Mean = 64.1 years European — UKB —
PSS011330 — — 196,368 individuals,
47.3 % Male samples
 Mean = 64.1 years
Sd = 2.9 years		 European — UKB —