Trait: non-alcoholic fatty liver disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003095
Description A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. [NCIT: C84444]
Trait category
Digestive system disorder
Synonyms 5 synonyms
  • NAFLD - Nonalcoholic Fatty Liver Disease
  • Nonalcoholic Fatty Liver Disease
  • fatty liver disease, nonalcoholic
  • non-alcoholic fatty liver
  • non-alcoholic fatty liver disease
Mapped term(s) 12 mapped terms
  • DC:0000158
  • DOID:0080208
  • EFO:1001248
  • ICD9:571.8
  • MESH:D065626
  • MONDO:0013209
  • MSH:D065626
  • MedDRA:10029530
  • NCIT:C84444
  • NCIt:C84444
  • OMIM:613282
  • SCTID:197315008

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)
PGS000655 NAFLD-10 PGP000119 Namjou B et al. BMC Med (2019) Non-alcoholic fatty liver disease non-alcoholic fatty liver disease 10 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000655/ScoringFiles/PGS000655.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
PPM001341 PGS000655 (NAFLD-10) PSS000584 PGP000119
Namjou B et al. (2019)
Reported Trait: Nonalcoholic fatty liver disease severity (NAFLD activity score above 5) AUROC: 0.724 Odds Ratio (OR, highest vs. lowest quintile): 8.5 [3.45, 20.96] sex, age, PCs (1-3), BMI, study site/medical centre
PPM001340 PGS000655 (NAFLD-10) PSS000583 PGP000119
Namjou B et al. (2019)
Reported Trait: Nonalcoholic fatty liver disease AUROC: 0.596 Odds Ratio (OR, highest vs. lowest quintile): 2.16 [1.81, 2.58] sex, age, PCs (1-3), BMI, study site/medical centre

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
PSS000584 Controls are cases with Nonalcoholic fatty liver disease activity score <5 and cases are those with a score >5. Case inclusion ICD codes: ICD9=571.5, ICD9=571.8, ICD9=571.9, ICD10=K75.81, ICD10=K76.0, ICD10=K76.9
[
  • 79 cases
  • , 156 controls
]
European eMERGE
PSS000583 Case inclusion ICD codes: ICD9=571.5, ICD9=571.8, ICD9=571.9, ICD10=K75.81, ICD10=K76.0, ICD10=K76.9
[
  • 1,106 cases
  • , 8,571 controls
]
,
42.6 % Male samples
European eMERGE