Trait: gastroesophageal reflux disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003948
Description A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. [NCIT: C26781]
Trait category
Digestive system disorder
Synonyms 21 synonyms
  • Esophageal Reflux
  • GASTROESOPHAGEAL REFLUX DIS
  • GERD
  • GERD - gastro-esophageal reflux disease
  • Gastresophageal reflux
  • Gastro Esophageal Reflux
  • Gastro oesophageal Reflux
  • Gastro-Esophageal Reflux
  • Gastro-oesophageal Reflux
  • Gastroesophageal Reflux
  • Reflux, Gastro-Esophageal
  • Reflux, Gastro-oesophageal
  • Reflux, Gastroesophageal
  • acid reflux
  • gastro-esophageal reflux
  • gastroesophageal reflux
  • gastroesophageal reflux disease
  • gastroesophageal reflux, paediatric
  • gastroesophageal reflux, pediatric
  • ger
  • reflux
Mapped terms 15 mapped terms
  • DOID:8534
  • HP:0002020
  • ICD10:K21
  • ICD9:530.81
  • MESH:D005764
  • MONDO:0007186
  • MeSH:D005764
  • MedDRA:10038262
  • MedDRA:10066874
  • NCIT:C26781
  • NCIt:C26781
  • OMIM:109350
  • SCTID:235595009
  • SNOMEDCT:235595009
  • UMLS:C0017168

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)
African
East Asian
South Asian
Additional Asian Ancestries
European
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 Scoring File (FTP Link)
PGS001851
(portability-PLR_530.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Esophagitis, GERD and related diseases gastroesophageal reflux disease,
esophagitis
13,855
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001851/ScoringFiles/PGS001851.txt.gz
PGS002063
(portability-ldpred2_530.1)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Esophagitis, GERD and related diseases gastroesophageal reflux disease,
esophagitis
836,413
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002063/ScoringFiles/PGS002063.txt.gz
PGS004468
(disease.K21.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
K21 (Gastroesophageal reflux disease) gastroesophageal reflux disease 1,059,939
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004468/ScoringFiles/PGS004468.txt.gz
PGS004538
(meta.K21.score)
PGP000561 |
Jung H et al. Commun Biol (2024)
K21 (Gastroesophageal reflux disease) gastroesophageal reflux disease 1,059,939
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004538/ScoringFiles/PGS004538.txt.gz

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
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM009698 PGS001851
(portability-PLR_530.1)
PSS009326|
European Ancestry|
19,594 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.047 [0.033, 0.0609] sex, age, birth date, deprivation index, 16 PCs
PPM009699 PGS001851
(portability-PLR_530.1)
PSS009100|
European Ancestry|
4,045 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0513 [0.0205, 0.0821] sex, age, birth date, deprivation index, 16 PCs
PPM009700 PGS001851
(portability-PLR_530.1)
PSS008654|
European Ancestry|
6,525 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0309 [0.0066, 0.0551] sex, age, birth date, deprivation index, 16 PCs
PPM009701 PGS001851
(portability-PLR_530.1)
PSS008428|
Greater Middle Eastern Ancestry|
1,165 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0366 [-0.0214, 0.0943] sex, age, birth date, deprivation index, 16 PCs
PPM009702 PGS001851
(portability-PLR_530.1)
PSS008208|
South Asian Ancestry|
6,172 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0278 [0.0028, 0.0527] sex, age, birth date, deprivation index, 16 PCs
PPM009703 PGS001851
(portability-PLR_530.1)
PSS007990|
East Asian Ancestry|
1,774 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0121 [-0.0348, 0.0588] sex, age, birth date, deprivation index, 16 PCs
PPM009704 PGS001851
(portability-PLR_530.1)
PSS007773|
African Ancestry|
2,440 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0244 [-0.0154, 0.0642] sex, age, birth date, deprivation index, 16 PCs
PPM009705 PGS001851
(portability-PLR_530.1)
PSS008877|
African Ancestry|
3,836 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0371 [0.0054, 0.0688] sex, age, birth date, deprivation index, 16 PCs
PPM011366 PGS002063
(portability-ldpred2_530.1)
PSS009326|
European Ancestry|
19,594 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0644 [0.0504, 0.0783] sex, age, birth date, deprivation index, 16 PCs
PPM011367 PGS002063
(portability-ldpred2_530.1)
PSS009100|
European Ancestry|
4,045 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0532 [0.0223, 0.084] sex, age, birth date, deprivation index, 16 PCs
PPM011368 PGS002063
(portability-ldpred2_530.1)
PSS008654|
European Ancestry|
6,525 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0447 [0.0204, 0.0689] sex, age, birth date, deprivation index, 16 PCs
PPM011369 PGS002063
(portability-ldpred2_530.1)
PSS008428|
Greater Middle Eastern Ancestry|
1,165 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0342 [-0.0238, 0.092] sex, age, birth date, deprivation index, 16 PCs
PPM011370 PGS002063
(portability-ldpred2_530.1)
PSS008208|
South Asian Ancestry|
6,172 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0522 [0.0273, 0.0771] sex, age, birth date, deprivation index, 16 PCs
PPM011371 PGS002063
(portability-ldpred2_530.1)
PSS007990|
East Asian Ancestry|
1,774 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0273 [-0.0196, 0.074] sex, age, birth date, deprivation index, 16 PCs
PPM011372 PGS002063
(portability-ldpred2_530.1)
PSS007773|
African Ancestry|
2,440 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.034 [-0.0059, 0.0737] sex, age, birth date, deprivation index, 16 PCs
PPM011373 PGS002063
(portability-ldpred2_530.1)
PSS008877|
African Ancestry|
3,836 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Esophagitis, GERD and related diseases Partial Correlation (partial-r): 0.0136 [-0.0181, 0.0454] sex, age, birth date, deprivation index, 16 PCs
PPM020583 PGS004468
(disease.K21.score)
PSS011364|
European Ancestry|
56,192 individuals
PGP000561 |
Jung H et al. Commun Biol (2024)
Reported Trait: K21 (Gastro-oesophageal reflux disease) OR: 1.19096
PPM020653 PGS004538
(meta.K21.score)
PSS011364|
European Ancestry|
56,192 individuals
PGP000561 |
Jung H et al. Commun Biol (2024)
Reported Trait: K21 (Gastro-oesophageal reflux disease) OR: 1.26524

Evaluated Samples

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
PSS009100 4,045 individuals European Poland (NE Europe) UKB
PSS008428 1,165 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS009326 19,594 individuals European UK (+ Ireland) UKB
PSS008654 6,525 individuals European Italy (South Europe) UKB
PSS008208 6,172 individuals South Asian India (South Asia) UKB
PSS008877 3,836 individuals African unspecified Nigeria (West Africa) UKB
PSS007990 1,774 individuals East Asian China (East Asia) UKB
PSS007773 2,440 individuals African American or Afro-Caribbean Carribean UKB
PSS011364 56,192 individuals European UKB