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
  • MeSH:D065626
  • MedDRA:10029530
  • NCIT:C84444
  • NCIt:C84444
  • OMIM:613282
  • SCTID:197315008

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:
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Multi-ancestry (excluding European)
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Additional Asian Ancestries
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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)
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

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
PPM001341 PGS000655
(NAFLD-10)
PSS000584|
European Ancestry|
235 individuals
PGP000119 |
Namjou B et al. BMC Med (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|
European Ancestry|
9,677 individuals
PGP000119 |
Namjou B et al. BMC Med (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)
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