Trait: Hyperthyroidism

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009189
Description Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. [NCIT: P378]
Trait category
Other disease
Synonyms 2 synonyms
  • hyperthyroidism
  • overactive thyroid
Mapped terms 10 mapped terms
  • DOID:7998
  • ICD10:E05
  • ICD10:E05.9
  • ICD9:242.90
  • MESH:D006980
  • MONDO:0004425
  • MedDRA:10020850
  • NCIT:C3123
  • NCIt:C3123
  • SCTID:34486009
Child trait(s) Thyrotoxicosis

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
Note: This table shows all PGS for "Hyperthyroidism" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS001042
(GBE_HC645)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Thyrotoxicosis [hyperthyroidism] (time-to-event) Thyrotoxicosis 226
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001042/ScoringFiles/PGS001042.txt.gz
PGS001043
(GBE_HC55)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Hyperthyroidism, thyrotoxicosis Hyperthyroidism,
Thyrotoxicosis
69
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001043/ScoringFiles/PGS001043.txt.gz
PGS001043
(GBE_HC55)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Hyperthyroidism, thyrotoxicosis Hyperthyroidism,
Thyrotoxicosis
69
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001043/ScoringFiles/PGS001043.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
PPM007977 PGS001043
(GBE_HC55)
PSS004530|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hyperthyroidism/thyrotoxicosis AUROC: 0.71366 [0.6965, 0.73082] : 0.0566
Incremental AUROC (full-covars): 0.04641
PGS R2 (no covariates): 0.02158
PGS AUROC (no covariates): 0.6323 [0.61251, 0.6521]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007976 PGS001043
(GBE_HC55)
PSS004529|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hyperthyroidism/thyrotoxicosis AUROC: 0.68797 [0.63675, 0.7392] : 0.04145
Incremental AUROC (full-covars): 0.04372
PGS R2 (no covariates): 0.01807
PGS AUROC (no covariates): 0.60983 [0.54762, 0.67204]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007975 PGS001043
(GBE_HC55)
PSS004528|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hyperthyroidism/thyrotoxicosis AUROC: 0.69729 [0.66674, 0.72784] : 0.04646
Incremental AUROC (full-covars): 0.03676
PGS R2 (no covariates): 0.01638
PGS AUROC (no covariates): 0.61845 [0.58525, 0.65166]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007974 PGS001043
(GBE_HC55)
PSS004527|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hyperthyroidism/thyrotoxicosis AUROC: 0.62359 [0.53601, 0.71117] : 0.03132
Incremental AUROC (full-covars): 0.0205
PGS R2 (no covariates): 0.01311
PGS AUROC (no covariates): 0.58858 [0.50442, 0.67274]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007973 PGS001043
(GBE_HC55)
PSS004526|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Hyperthyroidism/thyrotoxicosis AUROC: 0.73999 [0.69812, 0.78186] : 0.07663
Incremental AUROC (full-covars): -0.00598
PGS R2 (no covariates): 0.00164
PGS AUROC (no covariates): 0.53513 [0.48316, 0.5871]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007972 PGS001042
(GBE_HC645)
PSS004569|
European Ancestry|
67,425 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE thyrotoxicosis [hyperthyroidism] AUROC: 0.71296 [0.69708, 0.72884] : 0.05914
Incremental AUROC (full-covars): 0.04673
PGS R2 (no covariates): 0.02359
PGS AUROC (no covariates): 0.63392 [0.61562, 0.65223]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007971 PGS001042
(GBE_HC645)
PSS004568|
South Asian Ancestry|
7,831 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE thyrotoxicosis [hyperthyroidism] AUROC: 0.68899 [0.63846, 0.73951] : 0.04589
Incremental AUROC (full-covars): 0.03955
PGS R2 (no covariates): 0.01668
PGS AUROC (no covariates): 0.60594 [0.54869, 0.66319]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007970 PGS001042
(GBE_HC645)
PSS004567|
European Ancestry|
24,905 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE thyrotoxicosis [hyperthyroidism] AUROC: 0.69253 [0.66505, 0.72] : 0.0468
Incremental AUROC (full-covars): 0.03643
PGS R2 (no covariates): 0.01594
PGS AUROC (no covariates): 0.61209 [0.58178, 0.6424]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007969 PGS001042
(GBE_HC645)
PSS004566|
East Asian Ancestry|
1,704 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE thyrotoxicosis [hyperthyroidism] AUROC: 0.64568 [0.56662, 0.72474] : 0.04341
Incremental AUROC (full-covars): 0.0279
PGS R2 (no covariates): 0.02341
PGS AUROC (no covariates): 0.6179 [0.53755, 0.69825]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007968 PGS001042
(GBE_HC645)
PSS004565|
African Ancestry|
6,497 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: TTE thyrotoxicosis [hyperthyroidism] AUROC: 0.74292 [0.70274, 0.7831] : 0.0808
Incremental AUROC (full-covars): -0.001
PGS R2 (no covariates): 0.00441
PGS AUROC (no covariates): 0.55406 [0.50519, 0.60292]
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
PSS004526
[
  • 116 cases
  • , 6,381 controls
]
African unspecified UKB
PSS004527
[
  • 44 cases
  • , 1,660 controls
]
East Asian UKB
PSS004528
[
  • 286 cases
  • , 24,619 controls
]
European non-white British ancestry UKB
PSS004529
[
  • 92 cases
  • , 7,739 controls
]
South Asian UKB
PSS004530
[
  • 805 cases
  • , 66,620 controls
]
European white British ancestry UKB Testing cohort (heldout set)
PSS004565
[
  • 127 cases
  • , 6,370 controls
]
African unspecified UKB
PSS004566
[
  • 51 cases
  • , 1,653 controls
]
East Asian UKB
PSS004567
[
  • 334 cases
  • , 24,571 controls
]
European non-white British ancestry UKB
PSS004568
[
  • 107 cases
  • , 7,724 controls
]
South Asian UKB
PSS004569
[
  • 935 cases
  • , 66,490 controls
]
European white British ancestry UKB Testing cohort (heldout set)