| Publication Information (EuropePMC) | |
| Title | Polygenic risk scores in familial Alzheimer disease. |
| PubMed ID | 28213371(Europe PMC) |
| doi | 10.1212/WNL.0000000000003734 |
| Publication Date | Feb. 17, 2017 |
| Journal | Neurology |
| Author(s) | Tosto G, Bird TD, Tsuang D, Bennett DA, Boeve BF, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Bertlesen S, Graff-Radford NR, Medrano M, Lantigua R, Manly J, Ottman R, Rosenberg R, Schaid DJ, Schupf N, Stern Y, Sweet RA, Mayeux R. |
| 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 |
|
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 | — | — | — | — |
| 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 | — | — | — | — |
| 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 | — |
| 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 | — |
|
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. | — | [ ,
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 | — |