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 16 mapped terms
  • DOID:8534
  • HP:0002020
  • ICD10:K21
  • ICD9:530.81
  • MEDGEN:6553
  • 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
GWAS
Dev
Eval
 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 —