Trait: Sarcoidosis

Trait Information
Identifier Orphanet_797
Description Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. [Orphanet: 797]
Trait category
Other disease
Synonyms 9 synonyms
  • Besnier-Boeck-Schaumann disease
  • Boeck sarcoid
  • Boeck's sarcoid
  • Boeck's sarcoidosis
  • Darier-Roussy sarcoid
  • besnier-Boeck-Schaumann syndrome
  • lymphogranulomatosis
  • sarcoid
  • sarcoidosis
Mapped terms 21 mapped terms
  • DOID:11335
  • ICD10:D80-D89
  • ICD10:D86
  • ICD10:D86.0
  • ICD10:D86.1
  • ICD10:D86.2
  • ICD10:D86.3
  • ICD10:D86.8
  • ICD10:D86.9
  • ICD9:135
  • MESH:D012507
  • MONDO:0019338
  • MeSH:D012507
  • MedDRA:10039486
  • MedDRA:10063666
  • NCIT:C34995
  • OMIM:181000
  • OMIM:612387
  • OMIM:612388
  • SCTID:31541009
  • UMLS:C0036202

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)
PGS000922
(GBE_HC170)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Sarcoidosis Sarcoidosis 12
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000922/ScoringFiles/PGS000922.txt.gz
PGS000923
(GBE_HC639)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Sarcoidosis (time-to-event) Sarcoidosis 22
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000923/ScoringFiles/PGS000923.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
PPM007447 PGS000923
(GBE_HC639)
PSS004554|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE sarcoidosis AUROC: 0.65455 [0.6217, 0.6874] : 0.02088
Incremental AUROC (full-covars): 0.09004
PGS R2 (no covariates): 0.018
PGS AUROC (no covariates): 0.64561 [0.61168, 0.67954]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007446 PGS000923
(GBE_HC639)
PSS004553|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE sarcoidosis AUROC: 0.67148 [0.61146, 0.73151] : 0.0372
Incremental AUROC (full-covars): 0.00677
PGS R2 (no covariates): 0.00103
PGS AUROC (no covariates): 0.52237 [0.45814, 0.58661]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007445 PGS000923
(GBE_HC639)
PSS004552|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE sarcoidosis AUROC: 0.67371 [0.61511, 0.7323] : 0.02923
Incremental AUROC (full-covars): 0.00926
PGS R2 (no covariates): 0.00429
PGS AUROC (no covariates): 0.58898 [0.53125, 0.64671]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007444 PGS000923
(GBE_HC639)
PSS004551|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE sarcoidosis AUROC: 0.70171 [0.64012, 0.7633] : 0.05018
Incremental AUROC (full-covars): 0.03514
PGS R2 (no covariates): 0.02657
PGS AUROC (no covariates): 0.66456 [0.60597, 0.72315]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007443 PGS000922
(GBE_HC170)
PSS004325|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sarcoidosis AUROC: 0.6486 [0.60932, 0.68789] : 0.01916
Incremental AUROC (full-covars): 0.09187
PGS R2 (no covariates): 0.01741
PGS AUROC (no covariates): 0.64282 [0.60353, 0.68211]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007442 PGS000922
(GBE_HC170)
PSS004324|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sarcoidosis AUROC: 0.66108 [0.58927, 0.7329] : 0.03112
Incremental AUROC (full-covars): 0.00713
PGS R2 (no covariates): 0.00089
PGS AUROC (no covariates): 0.52621 [0.44905, 0.60338]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007441 PGS000922
(GBE_HC170)
PSS004323|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sarcoidosis AUROC: 0.67662 [0.6145, 0.73874] : 0.03062
Incremental AUROC (full-covars): 0.02209
PGS R2 (no covariates): 0.00799
PGS AUROC (no covariates): 0.60582 [0.54774, 0.66391]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007440 PGS000922
(GBE_HC170)
PSS004322|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Sarcoidosis AUROC: 0.70759 [0.63998, 0.7752] PGS R2 (no covariates): 0.02057
: 0.05219
Incremental AUROC (full-covars): 0.03111
PGS AUROC (no covariates): 0.64298 [0.57429, 0.71167]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

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
PSS004322
[
  • 58 cases
  • , 6,439 controls
]
African unspecified UKB
PSS004323
[
  • 67 cases
  • , 24,838 controls
]
European non-white British ancestry UKB
PSS004324
[
  • 48 cases
  • , 7,783 controls
]
South Asian UKB
PSS004325
[
  • 176 cases
  • , 67,249 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004551
[
  • 72 cases
  • , 6,425 controls
]
African unspecified UKB
PSS004552
[
  • 77 cases
  • , 24,828 controls
]
European non-white British ancestry UKB
PSS004553
[
  • 72 cases
  • , 7,759 controls
]
South Asian UKB
PSS004554
[
  • 227 cases
  • , 67,198 controls
]
European white British ancestry UKB Testing cohort (heldout set)