Publication Information (EuropePMC) | |
Title | Genome-wide assessment of genetic risk for systemic lupus erythematosus and disease severity. |
PubMed ID | 32077931(Europe PMC) |
doi | 10.1093/hmg/ddaa030 |
Publication Date | June 1, 2020 |
Journal | Hum Mol Genet |
Author(s) | Chen L, Wang YF, Liu L, Bielowka A, Ahmed R, Zhang H, Tombleson P, Roberts AL, Odhams CA, Cunninghame Graham DS, Zhang X, Yang W, Vyse TJ, Morris DL. |
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) |
---|---|---|---|---|---|---|
PGS000771 (GRS95_SLEmain) |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 95 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000771/ScoringFiles/PGS000771.txt.gz | |
PGS000772 (GRS95_SLEgen) |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Systemic lupus erythematosus | systemic lupus erythematosus | 95 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000772/ScoringFiles/PGS000772.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 |
---|---|---|---|---|---|---|---|---|---|
PPM001996 | PGS000771 (GRS95_SLEmain) |
PSS000994| European Ancestry| 524 individuals |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Reported Trait: Renal disease age of onset | — | AUROC: 0.576 [0.518, 0.634] | — | — | Renal disease is used as a proxy for systemic lupus erythematosus severity |
PPM001997 | PGS000772 (GRS95_SLEgen) |
PSS000993| European Ancestry| 3,101 individuals |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Reported Trait: Renal disease | — | — | Odds Ratio (OR, top 20% vs bottom 20%): 1.578 [1.25, 1.991] | — | Renal disease is used as a proxy for systemic lupus erythematosus severity |
PPM001998 | PGS000771 (GRS95_SLEmain) |
PSS000994| European Ancestry| 524 individuals |
PGP000178 | Chen L et al. Hum Mol Genet (2020) |
Reported Trait: Renal disease age of onset | — | — | Odds Ratio (OR, top 20% vs bottom 20%): 3.155 [1.623, 6.133] | — | Renal disease is used as a proxy for systemic lupus erythematosus severity |
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 |
---|---|---|---|---|---|---|---|---|
PSS000994 | All individuals had systemic lupus erythematosus. Cases are individuals that also have renal disease | — | [
|
— | European | — | NR | Cases and controls obtained by SLEGEN. |
PSS000993 | All individuals had systemic lupus erythematosus. Cases are individuals that also have renal disease | — | [
|
— | European | — | NR | — |