Publication Information (EuropePMC) | |
Title | Local genetic variation of inflammatory bowel disease in Basque population and its effect in risk prediction. |
PubMed ID | 35232999(Europe PMC) |
doi | 10.1038/s41598-022-07401-2 |
Publication Date | March 1, 2022 |
Journal | Sci Rep |
Author(s) | Garcia-Etxebarria K, Merino O, Gaite-Reguero A, Rodrigues PM, Herrarte A, Etxart A, Ellinghaus D, Alonso-Galan H, Franke A, Marigorta UM, Bujanda L, D'Amato M. |
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) |
---|---|---|---|---|---|---|
PGS000017 (GPS_IBD) |
PGP000006 | Khera AV et al. Nat Genet (2018) |
Inflammatory bowel disease | inflammatory bowel disease | 6,907,112 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000017/ScoringFiles/PGS000017.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 |
---|---|---|---|---|---|---|---|---|---|
PPM012874 | PGS000017 (GPS_IBD) |
PSS009588| European Ancestry| 1,433 individuals |
PGP000288 | Garcia-Etxebarria K et al. Sci Rep (2022) |Ext. |
Reported Trait: Inflammatory Bowel Disease | — | AUROC: 0.69 [0.66, 0.72] | — | — | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS009588 | — | — | [
|
— | European | — | BV | — |