| Publication Information (EuropePMC) | |
| Title | Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis. |
| PubMed ID | 38531883(Europe PMC) |
| doi | 10.1038/s41467-023-44512-4 |
| Publication Date | March 26, 2024 |
| Journal | Nat Commun |
| Author(s) | Middha P, Thummalapalli R, Betti MJ, Yao L, Quandt Z, Balaratnam K, Bejan CA, Cardenas E, Falcon CJ,... Faleck DM, Princess Margaret Lung Group, Gubens MA, Huntsman S, Johnson DB, Kachuri L, Khan K, Li M, Lovly CM, Murray MH, Patel D, Werking K, Xu Y, Zhan LJ, Balko JM, Liu G, Aldrich MC, Schoenfeld AJ, Ziv E.Show more |
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)
|
|---|---|---|---|---|---|---|
| PGS004253 (uc_ldpred2) | PGP000545 | Middha P et al. Nat Commun (2024) | Ulcerative colitis | ulcerative colitis | 744,575 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004253/ScoringFiles/PGS004253.txt.gz | |
| PGS004254 (cd_ldpred2) | PGP000545 | Middha P et al. Nat Commun (2024) | Crohn's disease | Crohn's disease | 744,682 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004254/ScoringFiles/PGS004254.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM020319 | PGS004253 (uc_ldpred2) | PSS011335| European Ancestry| 5,735 individuals | PGP000545 | Middha P et al. Nat Commun (2024) | Reported Trait: Ulcerative colitis | OR: 1.84 [1.76, 1.93] | AUROC: 0.66 [0.64, 0.68] | — | age at diagnosis/enrollment, sex, genotyping array, 10 PCs | — |
| PPM020320 | PGS004253 (uc_ldpred2) | PSS011334| European Ancestry| 21,335 individuals | PGP000545 | Middha P et al. Nat Commun (2024) | Reported Trait: Ulcerative colitis | OR: 1.75 [1.59, 1.92] | AUROC: 0.65 [0.62, 0.68] | — | age, sex, 10 PCs | — |
| PPM020321 | PGS004254 (cd_ldpred2) | PSS011333| European Ancestry| 5,285 individuals | PGP000545 | Middha P et al. Nat Commun (2024) | Reported Trait: Crohn's disease | OR: 1.83 [1.72, 1.95] | AUROC: 0.72 [0.69, 0.74] | — | age at diagnosis/enrollment, sex, genotyping array, 10 PCs | — |
| PPM020322 | PGS004254 (cd_ldpred2) | PSS011332| European Ancestry| 22,296 individuals | PGP000545 | Middha P et al. Nat Commun (2024) | Reported Trait: Crohn's disease | OR: 2.18 [2.05, 2.32] | AUROC: 0.72 [0.7, 0.73] | — | age, sex, 10 PCs | — |
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
|
|---|---|---|---|---|---|---|---|---|
| PSS011332 | — | — | [
| — | European | — | BioVU | — |
| PSS011333 | — | — | [
| — | European | — | UKB | — |
| PSS011334 | — | — | [
| — | European | — | BioVU | — |
| PSS011335 | — | — | [
| — | European | — | UKB | — |