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
  • Disease, Alzheimer
  • Dementia in Alzheimer's disease, unspecified (disorder)
  • Presenile Alzheimer Dementia
  • Alzheimer disease
  • Alzheimers
  • ALZHEIMERS DIS
  • sporadic Alzheimer's disease
  • DAT - Dementia Alzheimer's type
  • Dementia in Alzheimer's disease
  • Alzheimer's disease, NOS
  • Alzheimer Dementia, Presenile
  • Alzheimer's dementia
  • Dementia, Alzheimer Type
  • Alzheimer Dementia
  • Alzheimer's disease
  • Alzheimer dementia
  • Alzheimer's Dementia
  • Alzheimer's
  • [X]Dementia in Alzheimer's disease (disorder)
  • Dementia, Presenile
  • ALZHEIMER DIS
  • AD
  • [X]Dementia in Alzheimer's disease
  • AD - Alzheimer's disease
  • Disease, Alzheimer's
  • Alzheimer Disease
  • Dementia, Presenile Alzheimer
  • Alzheimer Type Dementia
  • Dementia in Alzheimer's disease (disorder)
  • Alzheimer's disease (disorder)
  • Alzheimers Dementia
  • Alzheimers disease
  • Dementia of the Alzheimer's type
  • Alzheimers dementia
Mapped term(s) 28 mapped terms
  • DOID:10652
  • UMLS:C0002395
  • ICD10:G30
  • OMIM:608907
  • MESH:D000544
  • MONDO:0004975
  • KEGG:05010
  • NIFSTD:birnlex_2092
  • NCIt:C34524
  • MSH:D000544
  • SNOMEDCT:26929004
  • NCIt:C2866
  • ICD9:290.1
  • OMIM:605526
  • SNOMEDCT:12348006
  • NCIT:C2866
  • ICD9:331.0
  • ICD10:G30.9
  • OMIM:502500
  • OMIM:615590
  • SNOMEDCT:15662003
  • NCIt:C38778
  • OMIM:615711
  • OMIM:104300
  • GARD:0000632
  • SCTID:142811000119104
  • HP:0002511
  • COHD:378419
Child trait(s) late-onset Alzheimers disease

Associated Polygenic Score(s)

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 (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants 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

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000050 PGS000025 (GRS) PSS000033 PGP000015
Chouraki V et al. (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 PGP000015
Chouraki V et al. (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 PGP000015
Chouraki V et al. (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 PGP000016
Desikan RS et al. (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 PGP000039
Tosto G et al. (2017)
Reported Trait: Alzheimer's disease (age-at-onset) β: -0.7
PPM000138 PGS000054 (ALZ21_EFIGA) PSS000084 PGP000039
Tosto G et al. (2017)
Reported Trait: Alzheimer's disease (age-at-onset) β: -0.86
PPM000901 PGS000334 (GRSfull_22) PSS000449 PGP000101
Zhang Q et al. (2020)
Reported Trait: Late-onset Alzheimer’s disease : 0.191[0.131, 0.269] R2 = variance explained on the liability scale
PPM000133 PGS000053 (ALZ21_NIA-LOAD) PSS000085 PGP000039
Tosto G et al. (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 PGP000039
Tosto G et al. (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.29[1.21, 1.38] Age, sex, APOE e4
PPM000135 PGS000054 (ALZ21_EFIGA) PSS000084 PGP000039
Tosto G et al. (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.73[1.57, 1.93] Age, sex
PPM000136 PGS000054 (ALZ21_EFIGA) PSS000084 PGP000039
Tosto G et al. (2017)
Reported Trait: Familial late-onset Alzheimer's disease (LOAD) OR: 1.71[1.55, 1.9] Age, sex, APOE e4

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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