| Predicted Trait | |
| Reported Trait | Alzheimer's disease (late onset) |
| Mapped Trait(s) | late-onset Alzheimer's disease (EFO_1001870) |
| Score Construction | |
| PGS Name | ALZ21_EFIGA |
| Development Method | |
| Name | Genome-wide significant variants |
| Parameters | P<5x10e-8 in discovery samples |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 21 |
| Effect Weight Type | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000039 |
| Citation (link to publication) | Tosto G et al. Neurology (2017) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 100% 55,134 individuals (100%) |
| PGS Evaluation | Hispanic or Latin American: 100% 1 Sample Sets |
Study Identifiers
|
Sample Numbers
|
Sample Ancestry
|
Cohort(s)
|
|---|---|---|---|
GWAS Catalog: GCST002245 Europe PMC: 24162737 | 55,134 individuals | European | 19 cohorts
|
PGS Performance Metric ID (PPM) |
PGS Sample Set ID (PSS) |
Performance Source
|
Trait
|
PGS Effect Sizes (per SD change) |
Classification Metrics
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Other Metrics
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Covariates Included in the Model
|
PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|
| PPM000135 | 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 | 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 | — |
| PPM000138 | 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 | — | — | — | — |
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods
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Participant Follow-up Time
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Sample Numbers
|
Age of Study Participants
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Sample Ancestry
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Additional Ancestry Description
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Cohort(s)
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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.Show more | — | [ ,
34.0 % Male samples | — | Hispanic or Latin American | Samples are described as "Carribbean Hispanic" | EFIGA | — |