Trait: skin sarcoidosis

Experimental Factor Ontology (EFO) Information
Identifier EFO_1000767
Description Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. [NCIT: P378]
Trait category
Other disease
Synonyms 7 synonyms
  • Cutaneous Sarcoidosis
  • Cutaneous sarcoid
  • cutaneous sarcoid
  • cutaneous sarcoidosis
  • sarcoidosis of zone of skin
  • skin sarcoidosis
  • zone of skin sarcoidosis
Mapped terms 7 mapped terms
  • DOID:13402
  • ICD10CM:D86.3
  • MONDO:0006611
  • NCIT:C34996
  • SCTID:55941000
  • UMLS:C0036203
  • Wikipedia:Cutaneous_manifestations_of_sarcoidosis

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 Scoring File (FTP Link)
PGS001872
(portability-PLR_697)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Sarcoidosis skin sarcoidosis 79
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001872/ScoringFiles/PGS001872.txt.gz
PGS002084
(portability-ldpred2_697)
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Sarcoidosis skin sarcoidosis 403,417
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002084/ScoringFiles/PGS002084.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
PPM011539 PGS002084
(portability-ldpred2_697)
PSS008899|
African Ancestry|
3,882 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0187 [-0.0128, 0.0502] sex, age, birth date, deprivation index, 16 PCs
PPM011538 PGS002084
(portability-ldpred2_697)
PSS007795|
African Ancestry|
2,441 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0131 [-0.0268, 0.0529] sex, age, birth date, deprivation index, 16 PCs
PPM011537 PGS002084
(portability-ldpred2_697)
PSS008230|
South Asian Ancestry|
6,194 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0182 [-0.0067, 0.0432] sex, age, birth date, deprivation index, 16 PCs
PPM011536 PGS002084
(portability-ldpred2_697)
PSS008450|
Greater Middle Eastern Ancestry|
1,186 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0603 [0.0029, 0.1173] sex, age, birth date, deprivation index, 16 PCs
PPM011535 PGS002084
(portability-ldpred2_697)
PSS008676|
European Ancestry|
6,565 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0103 [-0.0139, 0.0345] sex, age, birth date, deprivation index, 16 PCs
PPM011534 PGS002084
(portability-ldpred2_697)
PSS009122|
European Ancestry|
4,059 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0038 [-0.0271, 0.0346] sex, age, birth date, deprivation index, 16 PCs
PPM011533 PGS002084
(portability-ldpred2_697)
PSS009348|
European Ancestry|
19,670 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0184 [0.0044, 0.0324] sex, age, birth date, deprivation index, 16 PCs
PPM009870 PGS001872
(portability-PLR_697)
PSS007795|
African Ancestry|
2,441 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0157 [-0.0242, 0.0555] sex, age, birth date, deprivation index, 16 PCs
PPM009871 PGS001872
(portability-PLR_697)
PSS008899|
African Ancestry|
3,882 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0332 [0.0017, 0.0647] sex, age, birth date, deprivation index, 16 PCs
PPM009869 PGS001872
(portability-PLR_697)
PSS008230|
South Asian Ancestry|
6,194 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.018 [-0.0069, 0.0429] sex, age, birth date, deprivation index, 16 PCs
PPM009868 PGS001872
(portability-PLR_697)
PSS008450|
Greater Middle Eastern Ancestry|
1,186 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0554 [-0.002, 0.1124] sex, age, birth date, deprivation index, 16 PCs
PPM009867 PGS001872
(portability-PLR_697)
PSS008676|
European Ancestry|
6,565 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0166 [-0.0076, 0.0408] sex, age, birth date, deprivation index, 16 PCs
PPM009866 PGS001872
(portability-PLR_697)
PSS009122|
European Ancestry|
4,059 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0123 [-0.0186, 0.0431] sex, age, birth date, deprivation index, 16 PCs
PPM009865 PGS001872
(portability-PLR_697)
PSS009348|
European Ancestry|
19,670 individuals
PGP000263 |
Privé F et al. Am J Hum Genet (2022)
Reported Trait: Sarcoidosis Partial Correlation (partial-r): 0.0199 [0.0059, 0.0338] sex, age, birth date, deprivation index, 16 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
PSS008676 6,565 individuals European Italy (South Europe) UKB
PSS009348 19,670 individuals European UK (+ Ireland) UKB
PSS008230 6,194 individuals South Asian India (South Asia) UKB
PSS007795 2,441 individuals African American or Afro-Caribbean Carribean UKB
PSS009122 4,059 individuals European Poland (NE Europe) UKB
PSS008450 1,186 individuals Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB
PSS008899 3,882 individuals African unspecified Nigeria (West Africa) UKB