Trait: inflammatory bowel disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003767
Description A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. [NCIT: C3138]
Trait category
Digestive system disorder
Immune system disorder
Synonyms 6 synonyms
  • autoimmune bowel disorder
  • Inflammatory Bowel Diseases
  • INFLAMM BOWEL DIS
  • Bowel Diseases, Inflammatory
  • IBD
  • inflammatory bowel disease
Mapped term(s) 19 mapped terms
  • SNOMEDCT:24526004
  • OMIM:608448
  • NCIT:C3138
  • OMIMPS:266600
  • OMIM:611081
  • OMIM:618077
  • OMIM:612261
  • OMIM:612244
  • ICD9:558.9
  • MSH:D015212
  • OMIM:612245
  • OMIM:612278
  • MESH:D015212
  • KEGG:05321
  • MONDO:0005265
  • SCTID:24526004
  • UMLS:C0021390
  • DOID:0050589
  • NCIt:C3138

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000017 GPS_IBD PGP000006
Khera AV et al. Nat Genet (2018)
Inflammatory bowel disease inflammatory bowel disease 6,907,112 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000017/ScoringFiles/PGS000017.txt.gz

PGS Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance Metric ID
(PPM ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000026 PGS000017 (GPS_IBD) PSS000016 PGP000006
Khera AV et al. (2018)
Reported Trait: Inflammatory bowel disease AUROC: 0.63[0.62, 0.64] Nagelkerke’s R2 (estimate of variance explained by the PGS after covariate adjustment): 0.021 age; sex; Ancestry PC 1-4; genotyping chip

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
PSS000016 Inflammatory bowel disease ascertainment was based on report in an interview with a trained nurse, or an ICD-9 code of 555.X or ICD-10 code of K51.X in hospitalization records.
[
  • 5,853 cases
  • , 294,831 controls
]
European UKB UKB Phase 2