Publication Information (EuropePMC) | |
Title | Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes. |
PubMed ID | 36520433(Europe PMC) |
doi | 10.1001/jamanetworkopen.2022.47162 |
Publication Date | Dec. 1, 2022 |
Journal | JAMA Netw Open |
Author(s) | Jung SH, Kim HR, Chun MY, Jang H, Cho M, Kim B, Kim S, Jeong JH, Yoon SJ, Park KW, Kim EJ, Yoon B, Jang JW, Kim Y, Hong JY, Choi SH, Noh Y, Kim KW, Kim SE, Lee JS, Jung NY, Lee J, Lee AY, Kim BC, Cho SH, Cho H, Kim JH, Jung YH, Lee DY, Lee JH, Lee ES, Kim SJ, Moon SY, Son SJ, Hong CH, Bae JS, Lee S, Na DL, Seo SW, Cruchaga C, Kim HJ, Won HH. |
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) |
---|---|---|---|---|---|---|
PGS004589 (PRS80_trans) |
PGP000567 | Jung SH et al. JAMA Netw Open (2022) |
Alzheimer's disease | Alzheimer disease | 80 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004589/ScoringFiles/PGS004589.txt.gz | |
PGS004588 (PRS39_Eur) |
PGP000567 | Jung SH et al. JAMA Netw Open (2022) |
Alzheimer's disease | Alzheimer disease | 39 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004588/ScoringFiles/PGS004588.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 |
---|---|---|---|---|---|---|---|---|---|
PPM020711 | PGS004588 (PRS39_Eur) |
PSS011377| East Asian Ancestry| 379 individuals |
PGP000567 | Jung SH et al. JAMA Netw Open (2022) |
Reported Trait: Alzheimer's disease dementia | OR: 1.85 [1.05, 3.32] | — | — | Sex, age, education year, 4 PCs, APOE ε4 status | — |
PPM020712 | PGS004589 (PRS80_trans) |
PSS011377| East Asian Ancestry| 379 individuals |
PGP000567 | Jung SH et al. JAMA Netw Open (2022) |
Reported Trait: Alzheimer's disease dementia | OR: 2.09 [1.09, 4.04] | — | — | Sex, age, education year, 4 PCs, APOE ε4 status | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS011377 | — | — | [ ,
39.3 % Male samples |
Mean = 69.8 years Sd = 9.3 years |
East Asian (Korean) |
— | BICWALZS, PREMIER | — |