Trait: nodular goiter

Experimental Factor Ontology (EFO) Information
Identifier EFO_1001062
Description Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. [NCIT: C131437]
Trait category
Other disease
Synonyms 9 synonyms
  • Goiter, Nodular
  • Goiter, nodular
  • goiter, nodular
  • nodular goiter
  • nodular goiter (disease)
  • nodular goiter NOS
  • nodular goitre
  • nodular goitre (disease)
  • nodular goitre NOS
Child trait(s) multinodular goiter

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 "nodular goiter" 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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001814
(portability-PLR_241.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Nontoxic multinodular goiter multinodular goiter,
nontoxic goiter		 322
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001814/ScoringFiles/PGS001814.txt.gz
PGS002022
(portability-ldpred2_241.2)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Nontoxic multinodular goiter multinodular goiter,
nontoxic goiter		 375,470
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002022/ScoringFiles/PGS002022.txt.gz
PGS005261
(benign_nodular_goiter_mixed_pt)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Benign nodular goiter benign,
nodular goiter		 110
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005261/ScoringFiles/PGS005261.txt.gz
PGS005262
(benign_nodular_goiter_mixed_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Benign nodular goiter benign,
nodular goiter		 1,085,173
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005262/ScoringFiles/PGS005262.txt.gz
PGS005263
(benign_nodular_goiter_eur_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Benign nodular goiter benign,
nodular goiter		 1,085,170
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005263/ScoringFiles/PGS005263.txt.gz
PGS005273
(tc_vs_bng_mixed_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Thyroid carcenoma vs benign nodular goiter benign,
thyroid carcinoma,
nodular goiter		 1,085,164
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005273/ScoringFiles/PGS005273.txt.gz
PGS005274
(tc_vs_bng_eur_prscs)
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Thyroid carcenoma vs benign nodular goiter benign,
thyroid carcinoma,
nodular goiter		 1,084,965
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005274/ScoringFiles/PGS005274.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
PPM009413 PGS001814
(portability-PLR_241.2)
 PSS009058|
European Ancestry|
3,930 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0146 [-0.0168, 0.0459] sex, age, birth date, deprivation index, 16 PCs —
PPM009414 PGS001814
(portability-PLR_241.2)
 PSS008612|
European Ancestry|
6,363 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0205 [-0.0041, 0.0451] sex, age, birth date, deprivation index, 16 PCs —
PPM009415 PGS001814
(portability-PLR_241.2)
 PSS008388|
Greater Middle Eastern Ancestry|
1,140 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0211 [-0.0375, 0.0796] sex, age, birth date, deprivation index, 16 PCs —
PPM009416 PGS001814
(portability-PLR_241.2)
 PSS008166|
South Asian Ancestry|
5,927 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0654 [0.0399, 0.0907] sex, age, birth date, deprivation index, 16 PCs —
PPM009417 PGS001814
(portability-PLR_241.2)
 PSS007953|
East Asian Ancestry|
1,744 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.025 [-0.0222, 0.0722] sex, age, birth date, deprivation index, 16 PCs —
PPM009418 PGS001814
(portability-PLR_241.2)
 PSS007734|
African Ancestry|
2,378 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0403 [0.0, 0.0806] sex, age, birth date, deprivation index, 16 PCs —
PPM009419 PGS001814
(portability-PLR_241.2)
 PSS008837|
African Ancestry|
3,830 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0442 [0.0125, 0.0759] sex, age, birth date, deprivation index, 16 PCs —
PPM009412 PGS001814
(portability-PLR_241.2)
 PSS009284|
European Ancestry|
19,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0277 [0.0135, 0.0419] sex, age, birth date, deprivation index, 16 PCs —
PPM011050 PGS002022
(portability-ldpred2_241.2)
 PSS009284|
European Ancestry|
19,043 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.024 [0.0098, 0.0382] sex, age, birth date, deprivation index, 16 PCs —
PPM011051 PGS002022
(portability-ldpred2_241.2)
 PSS009058|
European Ancestry|
3,930 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0213 [-0.01, 0.0527] sex, age, birth date, deprivation index, 16 PCs —
PPM011052 PGS002022
(portability-ldpred2_241.2)
 PSS008612|
European Ancestry|
6,363 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.019 [-0.0056, 0.0436] sex, age, birth date, deprivation index, 16 PCs —
PPM011053 PGS002022
(portability-ldpred2_241.2)
 PSS008388|
Greater Middle Eastern Ancestry|
1,140 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0214 [-0.0372, 0.0799] sex, age, birth date, deprivation index, 16 PCs —
PPM011054 PGS002022
(portability-ldpred2_241.2)
 PSS008166|
South Asian Ancestry|
5,927 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0677 [0.0423, 0.0931] sex, age, birth date, deprivation index, 16 PCs —
PPM011055 PGS002022
(portability-ldpred2_241.2)
 PSS007953|
East Asian Ancestry|
1,744 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0096 [-0.0376, 0.0568] sex, age, birth date, deprivation index, 16 PCs —
PPM011056 PGS002022
(portability-ldpred2_241.2)
 PSS007734|
African Ancestry|
2,378 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0282 [-0.0122, 0.0685] sex, age, birth date, deprivation index, 16 PCs —
PPM011057 PGS002022
(portability-ldpred2_241.2)
 PSS008837|
African Ancestry|
3,830 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Nontoxic multinodular goiter — — Partial Correlation (partial-r): 0.0496 [0.0179, 0.0813] sex, age, birth date, deprivation index, 16 PCs —
PPM022744 PGS005261
(benign_nodular_goiter_mixed_pt)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: benign nodular gioter OR: 1.048
β: 0.047		 AUROC: 0.58544 — — —
PPM022745 PGS005262
(benign_nodular_goiter_mixed_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: benign nodular gioter OR: 1.40839
β: 0.34244		 AUROC: 0.59331 — — —
PPM022746 PGS005263
(benign_nodular_goiter_eur_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: benign nodular gioter OR: 1.362
β: 0.30895		 AUROC: 0.58756 — — —
PPM022756 PGS005273
(tc_vs_bng_mixed_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: thyroid carcenoma vs benign nodular goiter OR: 1.55052
β: 0.43859		 AUROC: 0.61739 — — —
PPM022757 PGS005274
(tc_vs_bng_eur_prscs)
 PSS012069|
Multi-ancestry (including European)|
94,651 individuals
 PGP000748 |
White SL et al. medRxiv (2025)
|Pre		 Reported Trait: thyroid carcenoma vs benign nodular goiter OR: 1.49346
β: 0.4011		 AUROC: 0.61349 — — —

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
PSS008612 — — 6,363 individuals — European Italy (South Europe) UKB —
PSS008388 — — 1,140 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS008166 — — 5,927 individuals — South Asian India (South Asia) UKB —
PSS008837 — — 3,830 individuals — African unspecified Nigeria (West Africa) UKB —
PSS009284 — — 19,043 individuals — European UK (+ Ireland) UKB —
PSS007953 — — 1,744 individuals — East Asian China (East Asia) UKB —
PSS007734 — — 2,378 individuals — African American or Afro-Caribbean Carribean UKB —
PSS012069 Cases - ICD-9-CM codes: 193, V10.87, ICD-10-CM billing codes: C73, Z85.850, ICD-9 codes: 193, V10.87, ICD-10 codes: C73, SNOMED: 92767001 Carcinoma in situ of thyroid gland, 363478007 Malignant tumor of thyroid gland, 255028004 Follicular thyroid carcinoma, 423158009 Hurthle cell carcinoma of thyroid, 772992009 Primary differentiated carcinoma of thyroid gland. Controls - ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter ICD-10-CM billing codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, ICD-9-CM codes: 241 Nontoxic nodular goiter, 241.0 Nontoxic uninodular goiter, 241.1 Nontoxic multinodular goiter, 241.9 Unspecified nontoxic nodular goiter, ICD-10 codes: E01.1 Iodine-deficiency related multinodular (endemic) goiter, E04.1 Nontoxic single thyroid nodule, E04.2 Nontoxic multinodular goiter, E04.8 Other specified nontoxic goiter, E04.9 Nontoxic goiter, unspecified, SNOMED: 419153005 Nodular goiter, 190236006 Non-toxic nodular goiter, 66392007 Substernal goiter, 60968001 Adenomatous goiter — 94,651 individuals — African American or Afro-Caribbean, Hispanic or Latin American, European — CCPM —
PSS009058 — — 3,930 individuals — European Poland (NE Europe) UKB —