| 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
|
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000053 (ALZ21_NIA-LOAD) |
PGP000039 | Tosto G et al. Neurology (2017) |
Alzheimer's disease (late onset) | late-onset Alzheimer's disease | 21 | - |
https://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 Alzheimer's disease | 21 | - |
https://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 Alzheimer's disease | 22 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000334/ScoringFiles/PGS000334.txt.gz |
| PGS002289 (GRS23_AD) |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Late-onset Alzheimer's disease | late-onset Alzheimer's disease | 23 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002289/ScoringFiles/PGS002289.txt.gz |
| PGS004918 (PRS8_Synapse) |
PGP000649 | Lawingco T et al. Neurobiol Aging (2020) |
Late-onset Alzheimers disease (based on SNPs in genes involved in synaptic function) | late-onset Alzheimer's disease | 8 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004918/ScoringFiles/PGS004918.txt.gz |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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) years | — | — | — | — |
| 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) years | — | — | — | — |
| 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 | — | — | R²: 0.191 [0.131, 0.269] | — | R2 = variance explained on the liability scale |
| PPM012991 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Pairs matching (short-term memory and attention) time to complete in person round 1 x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 5.3 | — | — |
| PPM012992 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Pairs matching (short-term memory and attention) no. of incorrect in person round 1 x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 4.4 | — | — |
| PPM012993 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Pairs matching (short-term memory and attention) time to complete online round 1 x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 3.5 | — | — |
| PPM012994 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Pairs matching (short-term memory and attention) time to complete in person round 2 x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 2.5 | — | — |
| PPM012995 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Numeric memory (short-term memory and attention) no. of correct online x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 8.8 | — | — |
| PPM012996 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Symbol digit substitution (processing speed) no. of correct in person x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 5.8 | — | — |
| PPM012997 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Symbol digit substitution (processing speed) no. attempted in person x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 5.7 | — | — |
| PPM012998 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Symbol digit substitution (processing speed) time to complete 10 substitutions online x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 4.5 | — | — |
| PPM012999 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Symbol digit substitution (processing speed) no. of correct online x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 2.4 | — | — |
| PPM013000 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Symbol digit substitution (processing speed) no. attempted online x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 2.0 | — | — |
| PPM012988 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Pairs matching (short-term memory and attention) no. of correct online round 1 x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 11.5 | — | — |
| PPM012989 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Pairs matching (short-term memory and attention) no. of correct in person round 1 x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 7.9 | — | — |
| PPM012990 | PGS002289 (GRS23_AD) |
PSS009642| European Ancestry| 497,087 individuals |
PGP000316 | Zimmerman SC et al. JAMA Netw Open (2022) |
Reported Trait: Pairs matching (short-term memory and attention) no. of correct in person round 2 x age interaction | — | — | Difference in mean cognition per decacde increase in age per 1-SD higher GRS (%): 9.4 | — | — |
| PPM021384 | PGS004918 (PRS8_Synapse) |
PSS011719| European Ancestry| 136 individuals |
PGP000649 | Lawingco T et al. Neurobiol Aging (2020) |
Reported Trait: Late-onset Alzheimer's disease | — | AUROC: 0.731 | — | — | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS011719 | Samples used in this study were extracted from autopsied brain tissue. Samples were taken from cognitively normal individuals witth a dementia rating of 0 (controls) and from late-onset Alzheimer's disease (LOAD) patients who had a clinical diagnosis of dementia due to AD and neuropathological confirmation of AD. | — | [ ,
39.0 % Male samples |
— | European | — | BfDR | — |
| 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. | — | [ ,
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) | — | [ ,
38.0 % Male samples |
— | European | — | NIA-LOAD | — |
| PSS009642 | G30.1 Alzheimer’s disease with late onset | — | 497,087 individuals, 45.9 % Male samples |
Mean = 57.1 years Sd = 7.9 years |
European | — | UKB | — |
| PSS000449 | — | — | [ ,
54.7 % Male samples |
Mean (Cases) = 77.6 years Sd (Cases) = 7.6 years |
European | — | ABIL | — |
| PSS000449 | — | — | [ ,
44.4 % Male samples |
Mean (Cases) = 86.8 years Sd (Cases) = 4.6 years |
European | — | MAS | — |
| PSS000449 | — | — | [ ,
47.0 % Male samples |
Mean (Cases) = 64.4 years Sd (Cases) = 4.5 years |
European | — | UKB | — |