Trait: nontoxic goiter

Trait Information
Identifier MONDO_0001658
Description Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. [NCIT: P378]
Trait category
Other disease
Synonyms 8 synonyms
  • Nodule-thyroid, non tox
  • euthyroid goiter
  • goiter, non-toxic
  • goitre, non-toxic
  • non-toxic goiter
  • non-toxic goitre
  • non-toxic simple goitre
  • nontoxic goiter
Mapped terms 5 mapped terms
  • DOID:13195
  • ICD10:E04.0
  • ICD10:E04.9
  • NCIT:C35271
  • UMLS:C0221777

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)
PGS000928
(GBE_HC644)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Other non-toxic goitre (time-to-event) nontoxic goiter 170
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000928/ScoringFiles/PGS000928.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
PPM007467 PGS000928
(GBE_HC644)
PSS004560|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other non-toxic goitre AUROC: 0.72128 [0.66829, 0.77427] : 0.0605
Incremental AUROC (full-covars): 0.01397
PGS R2 (no covariates): 0.01481
PGS AUROC (no covariates): 0.60656 [0.54212, 0.67101]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007468 PGS000928
(GBE_HC644)
PSS004561|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other non-toxic goitre AUROC: 0.6964 [0.60514, 0.78765] : 0.04766
Incremental AUROC (full-covars): 0.00791
PGS R2 (no covariates): 0.00213
PGS AUROC (no covariates): 0.559 [0.46259, 0.65542]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007469 PGS000928
(GBE_HC644)
PSS004562|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other non-toxic goitre AUROC: 0.71135 [0.68228, 0.74042] : 0.0552
Incremental AUROC (full-covars): 0.0365
PGS R2 (no covariates): 0.01651
PGS AUROC (no covariates): 0.62112 [0.58564, 0.6566]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007470 PGS000928
(GBE_HC644)
PSS004563|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other non-toxic goitre AUROC: 0.77727 [0.73439, 0.82016] : 0.09335
Incremental AUROC (full-covars): 0.02392
PGS R2 (no covariates): 0.01984
PGS AUROC (no covariates): 0.62519 [0.56312, 0.68726]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007471 PGS000928
(GBE_HC644)
PSS004564|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE other non-toxic goitre AUROC: 0.72495 [0.70529, 0.74461] : 0.05905
Incremental AUROC (full-covars): 0.03129
PGS R2 (no covariates): 0.01271
PGS AUROC (no covariates): 0.60048 [0.57499, 0.62598]
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
PSS004560
[
  • 84 cases
  • , 6,413 controls
]
African unspecified UKB
PSS004561
[
  • 32 cases
  • , 1,672 controls
]
East Asian UKB
PSS004562
[
  • 249 cases
  • , 24,656 controls
]
European non-white British ancestry UKB
PSS004563
[
  • 81 cases
  • , 7,750 controls
]
South Asian UKB
PSS004564
[
  • 548 cases
  • , 66,877 controls
]
European white British ancestry UKB Testing cohort (heldout set)