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
  • late-onset Alzheimer's
  • Alzheimer Type Senile Dementia
  • Senile Dementia, Alzheimer Type

Associated Polygenic Score(s)

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

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
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
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
PPM000137 PGS000053 (ALZ21_NIA-LOAD) PSS000085 PGP000039
Tosto G et al. (2017)
Reported Trait: Alzheimer's disease (age-at-onset) β: -0.7
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
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
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

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
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