Trait: Alzheimer's disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000249
Description A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. [NCIT: P378]
Trait category
Neurological disorder
Synonyms 34 synonyms
  • AD
  • AD - Alzheimer's disease
  • ALZHEIMER DIS
  • ALZHEIMERS DIS
  • Alzheimer Dementia
  • Alzheimer Dementia, Presenile
  • Alzheimer Disease
  • Alzheimer Type Dementia
  • Alzheimer dementia
  • Alzheimer disease
  • Alzheimer's
  • Alzheimer's Dementia
  • Alzheimer's dementia
  • Alzheimer's disease
  • Alzheimer's disease (disorder)
  • Alzheimer's disease, NOS
  • Alzheimers
  • Alzheimers Dementia
  • Alzheimers dementia
  • Alzheimers disease
  • DAT - Dementia Alzheimer's type
  • Dementia in Alzheimer's disease
  • Dementia in Alzheimer's disease (disorder)
  • Dementia in Alzheimer's disease, unspecified (disorder)
  • Dementia of the Alzheimer's type
  • Dementia, Alzheimer Type
  • Dementia, Presenile
  • Dementia, Presenile Alzheimer
  • Disease, Alzheimer
  • Disease, Alzheimer's
  • Presenile Alzheimer Dementia
  • [X]Dementia in Alzheimer's disease
  • [X]Dementia in Alzheimer's disease (disorder)
  • sporadic Alzheimer's disease
Mapped term(s) 28 mapped terms
  • COHD:378419
  • DOID:10652
  • GARD:0000632
  • HP:0002511
  • ICD10:G30
  • ICD10:G30.9
  • ICD9:290.1
  • ICD9:331.0
  • KEGG:05010
  • MESH:D000544
  • MONDO:0004975
  • MeSH:D000544
  • NCIT:C2866
  • NCIt:C2866
  • NCIt:C34524
  • NCIt:C38778
  • NIFSTD:birnlex_2092
  • OMIM:104300
  • OMIM:502500
  • OMIM:605526
  • OMIM:608907
  • OMIM:615590
  • OMIM:615711
  • SCTID:142811000119104
  • SNOMEDCT:12348006
  • SNOMEDCT:15662003
  • SNOMEDCT:26929004
  • UMLS:C0002395
Child trait(s) late-onset Alzheimers disease

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "Alzheimer's disease" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000025
(GRS)
PGP000015 |
Chouraki V et al. J Alzheimers Dis (2016)
Alzheimer's Disease Alzheimer's disease 19
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000025/ScoringFiles/PGS000025.txt.gz
PGS000026
(PHS)
PGP000016 |
Desikan RS et al. PLoS Med (2017)
Alzheimer’s Disease Alzheimer's disease 31
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000026/ScoringFiles/PGS000026.txt.gz
PGS000053
(ALZ21_NIA-LOAD)
PGP000039 |
Tosto G et al. Neurology (2017)
Alzheimer's disease (late onset) late-onset Alzheimers disease 21
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000053/ScoringFiles/PGS000053.txt.gz
PGS000054
(ALZ21_EFIGA)
PGP000039 |
Tosto G et al. Neurology (2017)
Alzheimer's disease (late onset) late-onset Alzheimers disease 21
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000054/ScoringFiles/PGS000054.txt.gz
PGS000334
(GRSfull_22)
PGP000101 |
Zhang Q et al. Nat Commun (2020)
Late-onset Alzheimer’s disease late-onset Alzheimers disease 22
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000334/ScoringFiles/PGS000334.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
PPM000050 PGS000025
(GRS)
PSS000033|
European Ancestry|
19,687 individuals
PGP000015 |
Chouraki V et al. J Alzheimers Dis (2016)
Reported Trait: Incident Alzheimer's disease HR: 1.17 [1.13, 1.21] ΔC-index between models with and without GRS: 0.0043 [0.0019, 0.0067] age at baseline, sex, education level, APOE Ɛ4 status HRs are derived from a meta-analysis of studies (adjusted for study center, and participant relatedness)
PPM000051 PGS000025
(GRS)
PSS000034|
European Ancestry|
4,353 individuals
PGP000015 |
Chouraki V et al. J Alzheimers Dis (2016)
Reported Trait: Incident Alzheimer's disease in APOE Ɛ4 carriers HR: 1.24 [1.15, 1.34] ΔC-index between models with and without GRS: 0.0112 [0.0015, 0.0208] age at baseline, sex, education level HRs are derived from a meta-analysis of studies (adjusted for study center, and participant relatedness)
PPM000052 PGS000025
(GRS)
PSS000035|
European Ancestry|
15,334 individuals
PGP000015 |
Chouraki V et al. J Alzheimers Dis (2016)
Reported Trait: Incident Alzheimer's disease in APOE Ɛ4 non-carriers HR: 1.13 [1.08, 1.18] ΔC-index between models with and without GRS: 0.0018 [-0.0003, 0.0039] age at baseline, sex, education level HRs are derived from a meta-analysis of studies (adjusted for study center, and participant relatedness)
PPM000053 PGS000026
(PHS)
PSS000036|
European Ancestry|
17,956 individuals
PGP000016 |
Desikan RS et al. PLoS Med (2017)
Reported Trait: Alzheimer disease r (correlation between between binned quantiles of PHS-predicted and empirical age of AD onset): 0.9 APOE risk alleles (e2 and e4), age, sex, genetic PCs 1-5
PPM000137 PGS000053
(ALZ21_NIA-LOAD)
PSS000085|
European Ancestry|
4,792 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Alzheimer's disease (age-at-onset) β: -0.7 (0.15)
PPM000133 PGS000053
(ALZ21_NIA-LOAD)
PSS000085|
European Ancestry|
4,792 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29 [1.21, 1.37] Age, sex
PPM000134 PGS000053
(ALZ21_NIA-LOAD)
PSS000085|
European Ancestry|
4,792 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29 [1.21, 1.38] Age, sex, APOE e4
PPM000138 PGS000054
(ALZ21_EFIGA)
PSS000084|
Hispanic or Latin American Ancestry|
3,324 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Alzheimer's disease (age-at-onset) β: -0.86 (0.15)
PPM000135 PGS000054
(ALZ21_EFIGA)
PSS000084|
Hispanic or Latin American Ancestry|
3,324 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.73 [1.57, 1.93] Age, sex
PPM000136 PGS000054
(ALZ21_EFIGA)
PSS000084|
Hispanic or Latin American Ancestry|
3,324 individuals
PGP000039 |
Tosto G et al. Neurology (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.71 [1.55, 1.9] Age, sex, APOE e4
PPM000901 PGS000334
(GRSfull_22)
PSS000449|
European Ancestry|
3,810 individuals
PGP000101 |
Zhang Q et al. Nat Commun (2020)
Reported Trait: Late-onset Alzheimer’s disease : 0.191 [0.131, 0.269] R2 = variance explained on the liability scale

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
PSS000084 EFIGA recruited patients from families multiply affected by LOAD, but of Caribbean Hispanic ancestry from the Dominican Republic and New York. Families were recruited after confirming diagnoses in the probands. Family members with dementia were also interviewed and neurologically evaluated. Clinical diagnoses were made in a consensus diagnostic conference by a panel of neurologists, neuropsychologists, and psychiatrists. Detailed description is available elsewhere.14 For these family-based studies, we included data from families for which their members (1) were 60 years or older at the time of enrollment; (2) had a diagnosis of probable or possible LOAD according to National Institute of Neurological and Communicative Disorders and Stroke–Alzheimer’s Disease and Related Disorders Association (NINDS-ADRDA) criteria; (3) had available pedigree information and covariates.
[
  • 2,155 cases
  • , 1,169 controls
]
,
34.0 % Male samples
Hispanic or Latin American Samples are described as "Carribbean Hispanic" EFIGA
PSS000085 Selection criteria included (1) a proband who received a dianosis of definite or probable late onset Alzheimer's Disease (LOAD) with age at onset of at least 60 years; (2) a full sibling with definite, probable, or possible LOAD with age at onset after 60 years; (3) a related family member (first-,second-,or third-degree relative) of theaffected sibling pair and 60 years or older if unaffected, or 50 years or older if dianosed with LOAD or mild cognitive impairment (MCI)
[
  • 2,128 cases
  • , 2,664 controls
]
,
38.0 % Male samples
European NIA-LOAD
PSS000033 Most of the studies used standard screening procedures based on history, medical review, screening questions, and cognitive assessments that flagged participants with potential cognitive impairment. These participants underwent complete neurological and neuropsychological evaluation. An initial decision was made regarding the presence or absence of dementia, using the DSM-IV criteria; a diagnosis of possible, probable, or definite AD was made as a second step using NINCDS-ADRDA (National Institute of Neurological Disorders and Stroke Alzheimer’s Disease and Related Disorders Association) criteria.
[
  • 2,782 cases
]
European 8 cohorts
  • 3C
  • ,ACT
  • ,AGES
  • ,CHS
  • ,FHS
  • ,ROSMAP
  • ,RS
  • ,WHICAP
As one SNP (rs9271192) was missing in FHS, WHICAP, and Rotterdam because of poor imputation quality, an 18 SNP-based GRS was computed in these cohorts. As the samples used in this project were partially overlapping with the ones used in the original IGAP study, we ran an additional IGAP meta-analysis after excluding those and did not find significant changes in the estimations of HRs for the SNPs considered
PSS000034 Most of the studies used standard screening procedures based on history, medical review, screening questions, and cognitive assessments that flagged participants with potential cognitive impairment. These participants underwent complete neurological and neuropsychological evaluation. An initial decision was made regarding the presence or absence of dementia, using the DSM-IV criteria; a diagnosis of possible, probable, or definite AD was made as a second step using NINCDS-ADRDA (National Institute of Neurological Disorders and Stroke Alzheimer’s Disease and Related Disorders Association) criteria. 4,353 individuals European 8 cohorts
  • 3C
  • ,ACT
  • ,AGES
  • ,CHS
  • ,FHS
  • ,ROSMAP
  • ,RS
  • ,WHICAP
As one SNP (rs9271192) was missing in FHS, WHICAP, and Rotterdam because of poor imputation quality, an 18 SNP-based GRS was computed in these cohorts. As the samples used in this project were partially overlapping with the ones used in the original IGAP study, we ran an additional IGAP meta-analysis after excluding those and did not find significant changes in the estimations of HRs for the SNPs considered
PSS000035 Most of the studies used standard screening procedures based on history, medical review, screening questions, and cognitive assessments that flagged participants with potential cognitive impairment. These participants underwent complete neurological and neuropsychological evaluation. An initial decision was made regarding the presence or absence of dementia, using the DSM-IV criteria; a diagnosis of possible, probable, or definite AD was made as a second step using NINCDS-ADRDA (National Institute of Neurological Disorders and Stroke Alzheimer’s Disease and Related Disorders Association) criteria. 15,334 individuals European 8 cohorts
  • 3C
  • ,ACT
  • ,AGES
  • ,CHS
  • ,FHS
  • ,ROSMAP
  • ,RS
  • ,WHICAP
As one SNP (rs9271192) was missing in FHS, WHICAP, and Rotterdam because of poor imputation quality, an 18 SNP-based GRS was computed in these cohorts. As the samples used in this project were partially overlapping with the ones used in the original IGAP study, we ran an additional IGAP meta-analysis after excluding those and did not find significant changes in the estimations of HRs for the SNPs considered
PSS000036 Cases are patients with clinically diagnosed AD and compared to cognitively normal older individuals
[
  • 6,984 cases
  • , 10,972 controls
]
,
40.51 % Male samples
European ADGC ADGC Phase 2
PSS000449
[
  • 216 cases
  • , 631 controls
]
,
54.7 % Male samples
Mean (Cases) = 77.6 years
Sd (Cases) = 7.6 years
European ABIL
PSS000449
[
  • 77 cases
  • , 588 controls
]
,
44.4 % Male samples
Mean (Cases) = 86.8 years
Sd (Cases) = 4.6 years
European MAS
PSS000449
[
  • 383 cases
  • , 1,915 controls
]
,
47.0 % Male samples
Mean (Cases) = 64.4 years
Sd (Cases) = 4.5 years
European UKB