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
  • MeSH:D014820
  • NCIT:C26915
  • NCIt:C26915
  • OMIM:193200
  • SNOMEDCT:56727007
  • UMLS:C0042900

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 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
PGS000760
(VIT)
PGP000164 |
Khan Z et al. Nat Commun (2021)
Vitiligo Vitiligo 42
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000760/ScoringFiles/PGS000760.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
PPM001764 PGS000738
(CONFIRMED_PGS)
PSS000907|
European Ancestry|
4,008 individuals
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]
PPM001763 PGS000738
(CONFIRMED_PGS)
PSS000907|
European Ancestry|
4,008 individuals
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]
PPM001762 PGS000738
(CONFIRMED_PGS)
PSS000907|
European Ancestry|
4,008 individuals
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]
PPM001761 PGS000738
(CONFIRMED_PGS)
PSS000907|
European Ancestry|
4,008 individuals
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]
PPM001935 PGS000760
(VIT)
PSS000970|
European Ancestry|
1,584 individuals
PGP000164 |
Khan Z et al. Nat Commun (2021)
Reported Trait: anti-PD-L1 induced hypothyroidism in cancer patients HR: 1.41 [1.22, 1.61] meta-analysis p-value: 1.10e-06 5 genotype PCs

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
PSS000970 Median = 400.0 days 1,584 individuals European GNEHGI2020Q2
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