Trait: fibroblastic disorder

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009432
Description A disorder that affects fibroblasts.
Trait category
Other disease
Synonym fibroblastic disease
Mapped terms 3 mapped terms
  • ICD10:M72
  • ISBN-10:0632067101
  • ISBN-13:978-0632067107

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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001031
(GBE_HC1261)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Fibroblastic disorders (time-to-event) fibroblastic disorder 252
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001031/ScoringFiles/PGS001031.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
PPM007918 PGS001031
(GBE_HC1261)
 PSS004238|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE fibroblastic disorders — AUROC: 0.55976 [0.51029, 0.60922] R²: 0.00596
Incremental AUROC (full-covars): -0.03186
PGS R2 (no covariates): 0.00184
PGS AUROC (no covariates): 0.46286 [0.41124, 0.51449]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007919 PGS001031
(GBE_HC1261)
 PSS004239|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE fibroblastic disorders — AUROC: 0.61535 [0.53232, 0.69839] R²: 0.02963
Incremental AUROC (full-covars): -0.02095
PGS R2 (no covariates): 0.00331
PGS AUROC (no covariates): 0.4468 [0.36142, 0.53217]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007920 PGS001031
(GBE_HC1261)
 PSS004240|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE fibroblastic disorders — AUROC: 0.60695 [0.58839, 0.62551] R²: 0.02173
Incremental AUROC (full-covars): 0.01126
PGS R2 (no covariates): 0.00604
PGS AUROC (no covariates): 0.55704 [0.53852, 0.57555]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007921 PGS001031
(GBE_HC1261)
 PSS004241|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE fibroblastic disorders — AUROC: 0.61823 [0.59234, 0.64411] R²: 0.02603
Incremental AUROC (full-covars): -0.00675
PGS R2 (no covariates): 2e-05
PGS AUROC (no covariates): 0.5053 [0.47836, 0.53224]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007922 PGS001031
(GBE_HC1261)
 PSS004242|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE fibroblastic disorders — AUROC: 0.61508 [0.60485, 0.62531] R²: 0.0247
Incremental AUROC (full-covars): 0.02537
PGS R2 (no covariates): 0.01088
PGS AUROC (no covariates): 0.57699 [0.56677, 0.5872]		 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
PSS004238 — —
[
  • 130 cases
  • , 6,367 controls
]
 — African unspecified — UKB —
PSS004239 — —
[
  • 49 cases
  • , 1,655 controls
]
 — East Asian — UKB —
PSS004240 — —
[
  • 991 cases
  • , 23,914 controls
]
 — European non-white British ancestry UKB —
PSS004241 — —
[
  • 456 cases
  • , 7,375 controls
]
 — South Asian — UKB —
PSS004242 — —
[
  • 3,254 cases
  • , 64,171 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)