| Publication Information (EuropePMC) | |
| Title | Global multi-ancestry genetic study elucidates genes and biological pathways associated with thyroid cancer and benign thyroid diseases |
| doi | 10.1101/2025.05.15.25327513 |
| Publication Date | May 16, 2025 |
| Journal | medRxiv Preprint |
| Author(s) | White SL, Brasher MS, Pattee J, Zhou W, Chapman S, Jee YH, Bell CC, Jamil TL, Barrio M, Hirbo J, Cox NJ, Straub P, Namba S, Bertucci-Richter E, Guare L, EdrisMohammed A, Morris S, Mulford AJ, Zhang H, Fennessy B, Tobin MD, Chen J, Williams AT, John C, van Heel DA, Mathur R, Finer S, Moksnes MR, Brumpton B, Åsvold BO, Peculis R, Rovite V, Konrade I, Wang Y, Crooks K, Chavan S, Fisher MJ, Rafaels N, Lin M, Shortt J, Sanders AR, Whiteman D, MacGregor S, Medland S, Thorsteinsdóttir U, Stefánsson K, Karaderi T, Egan KM, Bocklage T, McCrary HC, Riedlingeer G, Salhia B, Shriver C, Phan MD, Farlow JL, Edge S, Kaur V, Churchman M, Rounbehler RJ, Brock PL, Ringel MD, Pividori M, Schweppe R, Raeburn CD, Walters R, Chen Z, Li L, Matsuda K, Okada Y, Zoellner S, Verma A, Preuss M, Kenny E, Hendricks A, Fishbein L, Kraft P, Daly M, Neale B, The biobank at the Colorado Center for Personalized Medicine, Genes & Health Research Team, The BioBank Japan Project, Martin A, Cole JB, Haugen BR, Gignoux CR, Pozdeyev N. |
| 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) |
|---|---|---|---|---|---|---|
| PGS005269 (hypothyroidism_eur_prscs) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Hypothyroidism | hypothyroidism | 1,085,170 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005269/ScoringFiles/PGS005269.txt.gz |
| PGS005268 (hypothyroidism_mixed_prscs) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Hypothyroidism | hypothyroidism | 1,085,173 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005268/ScoringFiles/PGS005268.txt.gz |
| PGS005266 (graves_disease_eur_prscs) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Graves' disease | Graves disease | 1,085,170 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005266/ScoringFiles/PGS005266.txt.gz |
| PGS005265 (graves_disease_mixed_prscs) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Graves' disease | Graves disease | 1,085,173 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005265/ScoringFiles/PGS005265.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 |
| 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 |
| 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 |
| PGS005258 (thyroid_cancer_mixed_pt) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Thyroid carcenoma | thyroid carcinoma | 84 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005258/ScoringFiles/PGS005258.txt.gz |
| PGS005264 (graves_disease_mixed_pt) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Graves' disease | Graves disease | 112 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005264/ScoringFiles/PGS005264.txt.gz |
| PGS005267 (hypothyroidism_mixed_pt) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Hypothyroidism | hypothyroidism | 439 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005267/ScoringFiles/PGS005267.txt.gz |
| PGS005270 (lymphocytic_thyroiditis_mixed_pt) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Lymphocytic thyroiditis | Hashimoto's thyroiditis | 55 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005270/ScoringFiles/PGS005270.txt.gz |
| PGS005259 (thyroid_cancer_mixed_prscs) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Thyroid carcenoma | thyroid carcinoma | 1,085,173 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005259/ScoringFiles/PGS005259.txt.gz |
| PGS005260 (thyroid_cancer_eur_prscs) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Thyroid carcenoma | thyroid carcinoma | 1,085,170 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005260/ScoringFiles/PGS005260.txt.gz |
| PGS005272 (lymphocytic_thyroiditis_eur_prscs) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Lymphocytic thyroiditis | Hashimoto's thyroiditis | 1,085,142 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005272/ScoringFiles/PGS005272.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 |
| PGS005271 (lymphocytic_thyroiditis_mixed_prscs) |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Lymphocytic thyroiditis | Hashimoto's thyroiditis | 1,085,156 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005271/ScoringFiles/PGS005271.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 |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM022741 | PGS005258 (thyroid_cancer_mixed_pt) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: thyroid carcenoma | OR: 1.02 β: 0.016 |
AUROC: 0.68616 | — | — | — |
| PPM022742 | PGS005259 (thyroid_cancer_mixed_prscs) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: thyroid carcenoma | OR: 2.03689 β: 0.71142 |
AUROC: 0.69525 | — | — | — |
| PPM022743 | PGS005260 (thyroid_cancer_eur_prscs) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: thyroid carcenoma | OR: 1.96019 β: 0.67304 |
AUROC: 0.68452 | — | — | — |
| 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 | — | — | — |
| PPM022747 | PGS005264 (graves_disease_mixed_pt) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: graves' disease | OR: 1.008 β: 0.008 |
AUROC: 0.6587 | — | — | — |
| PPM022748 | PGS005265 (graves_disease_mixed_prscs) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: graves' disease | OR: 1.62508 β: 0.48556 |
AUROC: 0.66522 | — | — | — |
| PPM022749 | PGS005266 (graves_disease_eur_prscs) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: graves' disease | OR: 1.54333 β: 0.43394 |
AUROC: 0.66373 | — | — | — |
| PPM022750 | PGS005267 (hypothyroidism_mixed_pt) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: hypothyroidism | OR: 1.142 β: 0.133 |
AUROC: 0.64 | — | — | — |
| PPM022751 | PGS005268 (hypothyroidism_mixed_prscs) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: hypothyroidism | OR: 1.65809 β: 0.50567 |
AUROC: 0.63892 | — | — | — |
| PPM022752 | PGS005269 (hypothyroidism_eur_prscs) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: hypothyroidism | OR: 1.6521 β: 0.50205 |
AUROC: 0.63863 | — | — | — |
| PPM022753 | PGS005270 (lymphocytic_thyroiditis_mixed_pt) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: lymphocytic thyroiditis | OR: 1.037 β: 0.037 |
AUROC: 0.63868 | — | — | — |
| PPM022754 | PGS005271 (lymphocytic_thyroiditis_mixed_prscs) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: lymphocytic thyroiditis | OR: 1.54908 β: 0.43766 |
AUROC: 0.62973 | — | — | — |
| PPM022755 | PGS005272 (lymphocytic_thyroiditis_eur_prscs) |
PSS012069| Multi-ancestry (including European)| 94,651 individuals |
PGP000748 | White SL et al. medRxiv (2025) |Pre |
Reported Trait: lymphocytic thyroiditis | OR: 1.41698 β: 0.34853 |
AUROC: 0.60542 | — | — | — |
| 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 | — | — | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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 | — |