Publication Information (EuropePMC) | |
Title | Phenotype Risk Score but Not Genetic Risk Score Aids in Identifying Individuals With Systemic Lupus Erythematosus in the Electronic Health Record. |
PubMed ID | 37096581(Europe PMC) |
doi | 10.1002/art.42544 |
Publication Date | July 12, 2023 |
Journal | Arthritis Rheumatol |
Author(s) | Barnado A, Wheless L, Camai A, Green S, Han B, Katta A, Denny JC, Sawalha AH. |
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) |
---|---|---|---|---|---|---|
PGS003960 (GRS57_SLE) |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Systemic lupus erythematosus | systemic lupus erythematosus | 57 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003960/ScoringFiles/PGS003960.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 |
---|---|---|---|---|---|---|---|---|---|
PPM019115 | PGS003960 (GRS57_SLE) |
PSS011186| Multi-ancestry (including European)| 3,048 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.65 [0.63, 0.67] | — | — | — |
PPM019116 | PGS003960 (GRS57_SLE) |
PSS011188| European Ancestry| 1,994 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.63 [0.6, 0.66] | — | — | — |
PPM019117 | PGS003960 (GRS57_SLE) |
PSS011187| African Ancestry| 902 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.5 [0.44, 0.56] | — | — | — |
PPM019118 | PGS003960 (GRS57_SLE) |
PSS011186| Multi-ancestry (including European)| 3,048 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.89 [0.87, 0.9] | — | phenotype risk score | — |
PPM019119 | PGS003960 (GRS57_SLE) |
PSS011188| European Ancestry| 1,994 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.87 [0.85, 0.89] | — | phenotype risk score | — |
PPM019120 | PGS003960 (GRS57_SLE) |
PSS011187| African Ancestry| 902 individuals |
PGP000509 | Barnado A et al. Arthritis Rheumatol (2023) |
Reported Trait: Systemic lupus erythematosus | — | AUROC: 0.89 [0.86, 0.93] | — | phenotype risk score | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS011186 | — | — | [
|
— | European | — | BioVU | — |
PSS011186 | — | — | [
|
— | African unspecified | — | BioVU | — |
PSS011186 | — | — | [
|
— | Asian unspecified | — | BioVU | — |
PSS011186 | — | — | [
|
— | Not reported | — | BioVU | — |
PSS011187 | — | — | [
|
— | African unspecified | — | BioVU | — |
PSS011188 | — | — | [
|
— | European | — | BioVU | — |