Trait: myxedema

Experimental Factor Ontology (EFO) Information
Identifier EFO_1001055
Description A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance. [NCIT: C34834]
Trait category
Other disease
Synonyms 6 synonyms
  • MYXEDEMA
  • Myxedema
  • Myxedema (disorder)
  • Myxoedema
  • myxedema
  • myxoedema
Mapped terms 12 mapped terms
  • DOID:11634
  • MEDGEN:6506
  • MESH:D009230
  • MONDO:0009718
  • MeSH:D009230
  • MedDRA:10028663
  • NCIT:C34834
  • NCIt:C34834
  • OMIM:255900
  • SCTID:43153006
  • SNOMEDCT:43153006
  • UMLS:C0027145

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)
PGS000965
(GBE_HC219)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Hypothyroidism/myxoedema hypothyroidism,
myxedema		 4,535
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000965/ScoringFiles/PGS000965.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
PPM007649 PGS000965
(GBE_HC219)
 PSS004354|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hypothyroidism/myxoedema — AUROC: 0.70914 [0.67391, 0.74437] R²: 0.06732
Incremental AUROC (full-covars): 0.00847
PGS R2 (no covariates): 0.01005
PGS AUROC (no covariates): 0.58277 [0.54281, 0.62272]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007650 PGS000965
(GBE_HC219)
 PSS004355|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hypothyroidism/myxoedema — AUROC: 0.68903 [0.61236, 0.7657] R²: 0.05952
Incremental AUROC (full-covars): 0.01842
PGS R2 (no covariates): 0.01318
PGS AUROC (no covariates): 0.58777 [0.50589, 0.66966]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007651 PGS000965
(GBE_HC219)
 PSS004356|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hypothyroidism/myxoedema — AUROC: 0.76462 [0.75294, 0.7763] R²: 0.14559
Incremental AUROC (full-covars): 0.06544
PGS R2 (no covariates): 0.06844
PGS AUROC (no covariates): 0.68233 [0.66882, 0.69583]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007652 PGS000965
(GBE_HC219)
 PSS004357|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hypothyroidism/myxoedema — AUROC: 0.74628 [0.72661, 0.76594] R²: 0.13858
Incremental AUROC (full-covars): 0.03694
PGS R2 (no covariates): 0.04737
PGS AUROC (no covariates): 0.64507 [0.62236, 0.66778]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007653 PGS000965
(GBE_HC219)
 PSS004358|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Hypothyroidism/myxoedema — AUROC: 0.76828 [0.76142, 0.77515] R²: 0.14978
Incremental AUROC (full-covars): 0.07249
PGS R2 (no covariates): 0.07271
PGS AUROC (no covariates): 0.68907 [0.68098, 0.69716]		 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
PSS004354 — —
[
  • 194 cases
  • , 6,303 controls
]
 — African unspecified — UKB —
PSS004355 — —
[
  • 53 cases
  • , 1,651 controls
]
 — East Asian — UKB —
PSS004356 — —
[
  • 1,582 cases
  • , 23,323 controls
]
 — European non-white British ancestry UKB —
PSS004357 — —
[
  • 624 cases
  • , 7,207 controls
]
 — South Asian — UKB —
PSS004358 — —
[
  • 4,298 cases
  • , 63,127 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)