| Predicted Trait | |
| Reported Trait | Alzheimer's disease (late onset) |
| Mapped Trait(s) | late-onset Alzheimers disease (EFO_1001870) |
| Score Construction | |
| PGS Name | ALZ21_EFIGA |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 21 |
| Development Method | |
| Name | Genome-wide significant SNPs |
| Parameters | P<5x10e-8 in discovery samples |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000039 |
| Citation (link to publication) | Tosto G et al. Neurology (2017) |
| Study Identifiers | Sample Numbers | Sample Ancestry |
|---|---|---|
| GWAS Catalog: GCST002245 EuropePMC: 24162737 |
55,134 individuals | European |
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) |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM000136 | 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 | 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 | PSS000084 | PGP000039 Tosto G et al. (2017) |
Reported Trait: Alzheimer's disease (age-at-onset) | β: -0.86 | — | — | — | — |
|
PGS Sample Set ID (PSS ID) |
Detailed Phenotype Description | 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. | — | [ ,
34.0 % Male samples |
— | Hispanic or Latin American | Samples are described as "Carribbean Hispanic" | EFIGA | — |