Trait: late-onset Alzheimers disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_1001870
Description
  • This is the most common form of the disease, which happens to people age 65 and older. It may or may not run in families. So far, researchers haven’t found a particular gene that causes it. No one knows for sure why some people get it and others don’t.
Trait category
Neurological disorder
Synonyms 4 synonyms
  • Alzheimer Senile Dementia
  • Alzheimer Type Senile Dementia
  • Senile Dementia, Alzheimer Type
  • late-onset Alzheimer's

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
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
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
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
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
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
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)
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
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
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)

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
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