Trait: Vitiligo

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004208
Description Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. [NCIT: P378]
Trait category
Immune system disorder
Synonyms vitiligo
Mapped term(s) 12 mapped terms
  • COHD:138502
  • DOID:12306
  • ICD10:L80
  • ICD9:709.01
  • MESH:D014820
  • MONDO:0008661
  • MSH:D014820
  • NCIT:C26915
  • NCIt:C26915
  • OMIM:193200
  • SNOMEDCT:56727007
  • UMLS:C0042900

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)
PGS000738 CONFIRMED_PGS PGP000145
Roberts GHL et al. Am J Hum Genet (2019)
Vitiligo Vitiligo 48 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000738/ScoringFiles/PGS000738.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 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
PPM001761 PGS000738
(CONFIRMED_PGS)
PSS000907 PGP000145
Roberts GHL et al. Am J Hum Genet (2019)
Reported Trait: Vitiligo Odds Ratio (OR, top 20% vs remaining 80% of score distribution): 4.87 [4.21, 5.64]
PPM001762 PGS000738
(CONFIRMED_PGS)
PSS000907 PGP000145
Roberts GHL et al. Am J Hum Genet (2019)
Reported Trait: Vitiligo Odds Ratio (OR, top 10% vs remaining 90% of score distribution): 5.26 [4.42, 6.29]
PPM001763 PGS000738
(CONFIRMED_PGS)
PSS000907 PGP000145
Roberts GHL et al. Am J Hum Genet (2019)
Reported Trait: Vitiligo Odds Ratio (OR, top 10% vs remaining 95% of score distribution): 6.2 [4.96, 7.79]
PPM001764 PGS000738
(CONFIRMED_PGS)
PSS000907 PGP000145
Roberts GHL et al. Am J Hum Genet (2019)
Reported Trait: Vitiligo Odds Ratio (OR, top 1% vs remaining 99% of score distribution): 8.79 [5.85, 13.78]

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
PSS000907 Cases are individuals with vitiligo. Diagnoses of vitiligo in multiplex-affected subjects and reportedly unaffected family members were verified by manual review of all available phenotype information for each subject.
[
  • 1,827 cases
  • , 2,181 controls
]
European