Trait: Barrett's esophagus

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000280
Description Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) [NCIT: C2891]
Trait category
Digestive system disorder
Synonyms 27 synonyms
  • (ulcerative esophagitis) or (Barrett's esophagus)
  • BE
  • Barrett Epithelium
  • Barrett Esophagus
  • Barrett Syndrome
  • Barrett esophagus
  • Barrett's Syndrome
  • Barrett's esophagus
  • Barrett's esophagus (disorder)
  • Barrett's esophagus (disorder) [Ambiguous]
  • Barrett's esophagus with esophagitis
  • Barrett's esophagus with esophagitis (disorder)
  • Barrett's oesophagus
  • Barrett's ulcer of esophagus
  • Barrett's ulcer of esophagus (disorder)
  • Barretts Esophagus
  • Barretts syndrome
  • CLE
  • Epithelium, Barrett
  • Esophagus, Barrett
  • Esophagus, Barrett's
  • Syndrome, Barrett
  • Syndrome, Barrett's
  • cello
  • columnar epithelial-lined Lower esophagus
  • columnar-lined esophagus
  • ulcerative esophagitis
Mapped term(s) 13 mapped terms
  • COHD:443344
  • DOID:9206
  • ICD10:K22.7
  • ICD10:K22.70
  • ICD9:530.85
  • MESH:D001471
  • MONDO:0013662
  • MeSH:D001471
  • NCIT:C2891
  • NCIt:C2891
  • OMIM:614266
  • SCTID:196609006
  • SNOMEDCT:302914006

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
East Asian
South Asian
Additional Asian Ancestries
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGP000050 |
Graff RE et al. bioRxiv (2020)
Esophageal and stomach cancers gastric carcinoma,
Barrett's esophagus

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)
Evaluated Score PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000205 PGS000085
European Ancestry|
411,448 individuals
PGP000050 |
Graff RE et al. bioRxiv (2020)
Reported Trait: Esophageal and stomach cancers OR: 1.07 [1.0, 1.13] Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB

Evaluated Samples

PGS Sample Set 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
PSS000124 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 21010 and 21020
  • 1,094 cases
  • , 410,354 controls
46.0 % Male samples
Mean = 58.0 years European GERA, UKB