Trait: hypothyroidism

Trait Information
Identifier MONDO_0005420
Description Abnormally low levels of thyroid hormone. [NCIT: P378]
Trait category
Other disease
Synonyms 2 synonyms
  • hypothyroidism
  • underactive thyroid
Child trait(s) myxedema

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 "hypothyroidism" 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)
PGS000759
(hypoT)
 PGP000164 |
Khan Z et al. Nat Commun (2021)
 Hypothyroidism hypothyroidism 140
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000759/ScoringFiles/PGS000759.txt.gz
PGS000761
(LDpred2_hypoT_PRS)
 PGP000164 |
Khan Z et al. Nat Commun (2021)
 Hypothyroidism hypothyroidism 1,099,649
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000761/ScoringFiles/PGS000761.txt.gz
PGS000820
(PRS_hypothyroidism)
 PGP000204 |
Luo J et al. Clin Cancer Res (2021)
 Hypothyroidism (self-reported) hypothyroidism 890,908
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000820/ScoringFiles/PGS000820.txt.gz
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
PGS001181
(GBE_HC643)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Other hypothyroidism (time-to-event) hypothyroidism 4,739
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001181/ScoringFiles/PGS001181.txt.gz
PGS001816
(portability-PLR_244)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hypothyroidism hypothyroidism 11,130
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001816/ScoringFiles/PGS001816.txt.gz
PGS002024
(portability-ldpred2_244)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Hypothyroidism hypothyroidism 632,597
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002024/ScoringFiles/PGS002024.txt.gz
PGS002336
(disease_HYPOTHYROIDISM_SELF_REP.BOLT-LMM)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Hypothyroidism hypothyroidism 1,109,311
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002336/ScoringFiles/PGS002336.txt.gz
PGS002408
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.0001)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Hypothyroidism hypothyroidism 4,815
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002408/ScoringFiles/PGS002408.txt.gz
PGS002457
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.001)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Hypothyroidism hypothyroidism 17,519
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002457/ScoringFiles/PGS002457.txt.gz
PGS002506
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.01)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Hypothyroidism hypothyroidism 97,010
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002506/ScoringFiles/PGS002506.txt.gz
PGS002555
(disease_HYPOTHYROIDISM_SELF_REP.P+T.1e-06)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Hypothyroidism hypothyroidism 986
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002555/ScoringFiles/PGS002555.txt.gz
PGS002604
(disease_HYPOTHYROIDISM_SELF_REP.P+T.5e-08)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Hypothyroidism hypothyroidism 550
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002604/ScoringFiles/PGS002604.txt.gz
PGS002653
(disease_HYPOTHYROIDISM_SELF_REP.PolyFun-pred)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Hypothyroidism hypothyroidism 197,450
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002653/ScoringFiles/PGS002653.txt.gz
PGS002702
(disease_HYPOTHYROIDISM_SELF_REP.SBayesR)
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Hypothyroidism hypothyroidism 889,041
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002702/ScoringFiles/PGS002702.txt.gz
PGS002766
(Hypothyroidism_prscs)
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Hypothyroidism hypothyroidism 1,092,122
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002766/ScoringFiles/PGS002766.txt.gz
PGS004446
(disease.E03.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 E03 (Other hypothyroidism) hypothyroidism 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004446/ScoringFiles/PGS004446.txt.gz
PGS004516
(meta.E03.score)
 PGP000561 |
Jung H et al. Commun Biol (2024)
 E03 (Other hypothyroidism) hypothyroidism 1,059,939
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004516/ScoringFiles/PGS004516.txt.gz
PGS004789
(hypothyroid_PRSmix_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Hypothyroidism hypothyroidism 1,109,333
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004789/ScoringFiles/PGS004789.txt.gz
PGS004790
(hypothyroid_PRSmixPlus_eur)
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Hypothyroidism hypothyroidism 1,841,655
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004790/ScoringFiles/PGS004790.txt.gz
PGS004935
(hypothyroidism_snpnet_combined)
 PGP000665 |
Moreno-Grau S et al. Human Genomics (2024)
 Hypothyroidism hypothyroidism 6,127
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004935/ScoringFiles/PGS004935.txt.gz
PGS005218
(prsweights_hypothyroidism_excl23)
 PGP000733 |
Rand SA et al. Nat Genet (2025)
 Hypothyroidism hypothyroidism 1,110,091
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005218/ScoringFiles/PGS005218.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
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
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
PGS018677
(TPMI_244_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism hypothyroidism 217
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018677/ScoringFiles/PGS018677.txt.gz
PGS018678
(TPMI_244_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism hypothyroidism 939,824
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018678/ScoringFiles/PGS018678.txt.gz
PGS018679
(TPMI_244_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism hypothyroidism 24,819
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018679/ScoringFiles/PGS018679.txt.gz
PGS018680
(TPMI_244_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism hypothyroidism 983,780
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018680/ScoringFiles/PGS018680.txt.gz
PGS018681
(TPMI_244_PRSmix+)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism hypothyroidism 1,071,402
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018681/ScoringFiles/PGS018681.txt.gz
PGS018682
(TPMI_244_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism hypothyroidism 966,339
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018682/ScoringFiles/PGS018682.txt.gz
PGS018683
(TPMI_244.4_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism NOS hypothyroidism 493
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018683/ScoringFiles/PGS018683.txt.gz
PGS018684
(TPMI_244.4_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism NOS hypothyroidism 939,822
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018684/ScoringFiles/PGS018684.txt.gz
PGS018685
(TPMI_244.4_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism NOS hypothyroidism 414,367
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018685/ScoringFiles/PGS018685.txt.gz
PGS018686
(TPMI_244.4_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism NOS hypothyroidism 983,778
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018686/ScoringFiles/PGS018686.txt.gz
PGS018687
(TPMI_244.4_PRSmix+)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism NOS hypothyroidism 1,071,403
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018687/ScoringFiles/PGS018687.txt.gz
PGS018688
(TPMI_244.4_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Hypothyroidism NOS hypothyroidism 951,538
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018688/ScoringFiles/PGS018688.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
PPM001934 PGS000759
(hypoT)
 PSS000970|
European Ancestry|
1,584 individuals
 PGP000164 |
Khan Z et al. Nat Commun (2021)
 Reported Trait: anti-PD-L1 induced hypothyroidism in cancer patients HR: 1.52 [1.31, 1.74] — meta-analysis p-value: 7.52e-09 5 genotype PCs —
PPM001936 PGS000761
(LDpred2_hypoT_PRS)
 PSS000970|
European Ancestry|
1,584 individuals
 PGP000164 |
Khan Z et al. Nat Commun (2021)
 Reported Trait: anti-PD-L1 induced hypothyroidism in cancer patients HR: 1.49 [1.3, 1.71] — meta-analysis p-value: 5.49e-09 5 genotype PCs —
PPM002193 PGS000820
(PRS_hypothyroidism)
 PSS001068|
European Ancestry|
51,070 individuals
 PGP000204 |
Luo J et al. Clin Cancer Res (2021)
 Reported Trait: Spontaneous hypothyroidism OR: 1.33 [1.29, 1.37] AUROC: 0.6 — Age, sex, PCs(1-10) —
PPM002195 PGS000820
(PRS_hypothyroidism)
 PSS001070|
Multi-ancestry (including European)|
744 individuals
 PGP000204 |
Luo J et al. Clin Cancer Res (2021)
 Reported Trait: Immune checkpoint inhibitor therapy induced immune-related thyroid dysfunction in individuals with non-small cell lung cancer HR: 1.34 [1.08, 1.66] AUROC: 0.6 — Age, sex, PCs(1-10) —
PPM002197 PGS000820
(PRS_hypothyroidism)
 PSS001070|
Multi-ancestry (including European)|
744 individuals
 PGP000204 |
Luo J et al. Clin Cancer Res (2021)
 Reported Trait: Anti-PD-(L)1 monotherapy induced immune-related thyroid dysfunction in individuals with non-small cell lung cancer HR: 1.34 [1.07, 1.69] — — Age, sex, PCs(1-10) —
PPM002199 PGS000820
(PRS_hypothyroidism)
 PSS001069|
Multi-ancestry (including European)|
561 individuals
 PGP000204 |
Luo J et al. Clin Cancer Res (2021)
 Reported Trait: Immune checkpoint inhibitor therapy induced immune-related thyroid dysfunction in individuals with non-small cell lung cancer HR: 1.39 [1.07, 1.82] AUROC: 0.64 — Age, sex, PCs(1-10) —
PPM002198 PGS000820
(PRS_hypothyroidism)
 PSS001071|
European Ancestry|
634 individuals
 PGP000204 |
Luo J et al. Clin Cancer Res (2021)
 Reported Trait: Immune checkpoint inhibitor therapy induced immune-related thyroid dysfunction in individuals with non-small cell lung cancer HR: 1.27 [1.02, 1.59] — — Age, sex —
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
PPM008594 PGS001181
(GBE_HC643)
 PSS004555|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other hypothyroidism — AUROC: 0.70862 [0.67381, 0.74343] R²: 0.06703
Incremental AUROC (full-covars): 0.01118
PGS R2 (no covariates): 0.01121
PGS AUROC (no covariates): 0.58683 [0.5475, 0.62616]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008595 PGS001181
(GBE_HC643)
 PSS004556|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other hypothyroidism — AUROC: 0.71469 [0.64687, 0.78251] R²: 0.07343
Incremental AUROC (full-covars): 0.03489
PGS R2 (no covariates): 0.01956
PGS AUROC (no covariates): 0.60912 [0.53836, 0.67988]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008596 PGS001181
(GBE_HC643)
 PSS004557|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other hypothyroidism — AUROC: 0.76338 [0.75207, 0.77469] R²: 0.14671
Incremental AUROC (full-covars): 0.06656
PGS R2 (no covariates): 0.06971
PGS AUROC (no covariates): 0.68243 [0.66936, 0.69549]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008597 PGS001181
(GBE_HC643)
 PSS004558|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other hypothyroidism — AUROC: 0.74011 [0.72045, 0.75977] R²: 0.1348
Incremental AUROC (full-covars): 0.03883
PGS R2 (no covariates): 0.04904
PGS AUROC (no covariates): 0.6475 [0.62543, 0.66957]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008598 PGS001181
(GBE_HC643)
 PSS004559|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE other hypothyroidism — AUROC: 0.76691 [0.7602, 0.77362] R²: 0.15134
Incremental AUROC (full-covars): 0.0729
PGS R2 (no covariates): 0.07419
PGS AUROC (no covariates): 0.68962 [0.68178, 0.69747]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM009430 PGS001816
(portability-PLR_244)
 PSS008614|
European Ancestry|
6,601 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.1003 [0.0763, 0.1241] sex, age, birth date, deprivation index, 16 PCs —
PPM009428 PGS001816
(portability-PLR_244)
 PSS009286|
European Ancestry|
19,852 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.1192 [0.1054, 0.1329] sex, age, birth date, deprivation index, 16 PCs —
PPM009429 PGS001816
(portability-PLR_244)
 PSS009060|
European Ancestry|
4,100 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.1349 [0.1047, 0.1649] sex, age, birth date, deprivation index, 16 PCs —
PPM009431 PGS001816
(portability-PLR_244)
 PSS008390|
Greater Middle Eastern Ancestry|
1,186 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.1247 [0.0677, 0.1808] sex, age, birth date, deprivation index, 16 PCs —
PPM009432 PGS001816
(portability-PLR_244)
 PSS008168|
South Asian Ancestry|
6,272 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.11 [0.0854, 0.1344] sex, age, birth date, deprivation index, 16 PCs —
PPM009433 PGS001816
(portability-PLR_244)
 PSS007955|
East Asian Ancestry|
1,782 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.044 [-0.0027, 0.0905] sex, age, birth date, deprivation index, 16 PCs —
PPM009434 PGS001816
(portability-PLR_244)
 PSS007736|
African Ancestry|
2,434 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.0033 [-0.0366, 0.0432] sex, age, birth date, deprivation index, 16 PCs —
PPM009435 PGS001816
(portability-PLR_244)
 PSS008839|
African Ancestry|
3,876 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.0419 [0.0104, 0.0734] sex, age, birth date, deprivation index, 16 PCs —
PPM011066 PGS002024
(portability-ldpred2_244)
 PSS009286|
European Ancestry|
19,852 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.122 [0.1083, 0.1357] sex, age, birth date, deprivation index, 16 PCs —
PPM011067 PGS002024
(portability-ldpred2_244)
 PSS009060|
European Ancestry|
4,100 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.143 [0.1128, 0.1729] sex, age, birth date, deprivation index, 16 PCs —
PPM011068 PGS002024
(portability-ldpred2_244)
 PSS008614|
European Ancestry|
6,601 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.1035 [0.0795, 0.1273] sex, age, birth date, deprivation index, 16 PCs —
PPM011069 PGS002024
(portability-ldpred2_244)
 PSS008390|
Greater Middle Eastern Ancestry|
1,186 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.133 [0.0762, 0.189] sex, age, birth date, deprivation index, 16 PCs —
PPM011070 PGS002024
(portability-ldpred2_244)
 PSS008168|
South Asian Ancestry|
6,272 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.1186 [0.094, 0.1429] sex, age, birth date, deprivation index, 16 PCs —
PPM011071 PGS002024
(portability-ldpred2_244)
 PSS007955|
East Asian Ancestry|
1,782 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.047 sex, age, birth date, deprivation index, 16 PCs —
PPM011072 PGS002024
(portability-ldpred2_244)
 PSS007736|
African Ancestry|
2,434 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.0093 [-0.0306, 0.0492] sex, age, birth date, deprivation index, 16 PCs —
PPM011073 PGS002024
(portability-ldpred2_244)
 PSS008839|
African Ancestry|
3,876 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism — — Partial Correlation (partial-r): 0.0396 [0.0081, 0.0711] sex, age, birth date, deprivation index, 16 PCs —
PPM013101 PGS002336
(disease_HYPOTHYROIDISM_SELF_REP.BOLT-LMM)
 PSS009787|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0045 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013150 PGS002336
(disease_HYPOTHYROIDISM_SELF_REP.BOLT-LMM)
 PSS009788|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0111 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013248 PGS002336
(disease_HYPOTHYROIDISM_SELF_REP.BOLT-LMM)
 PSS009790|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0173 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013199 PGS002336
(disease_HYPOTHYROIDISM_SELF_REP.BOLT-LMM)
 PSS009789|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0247 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013389 PGS002408
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.0001)
 PSS009787|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0002 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013438 PGS002408
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.0001)
 PSS009788|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013487 PGS002408
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.0001)
 PSS009789|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0003 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013536 PGS002408
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.0001)
 PSS009790|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013585 PGS002457
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.001)
 PSS009787|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0001 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013634 PGS002457
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.001)
 PSS009788|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013683 PGS002457
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.001)
 PSS009789|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0001 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013732 PGS002457
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.001)
 PSS009790|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013781 PGS002506
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.01)
 PSS009787|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0001 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013830 PGS002506
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.01)
 PSS009788|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013879 PGS002506
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.01)
 PSS009789|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0002 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013928 PGS002506
(disease_HYPOTHYROIDISM_SELF_REP.P+T.0.01)
 PSS009790|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014026 PGS002555
(disease_HYPOTHYROIDISM_SELF_REP.P+T.1e-06)
 PSS009788|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.001 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014075 PGS002555
(disease_HYPOTHYROIDISM_SELF_REP.P+T.1e-06)
 PSS009789|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0012 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014124 PGS002555
(disease_HYPOTHYROIDISM_SELF_REP.P+T.1e-06)
 PSS009790|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0001 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM013977 PGS002555
(disease_HYPOTHYROIDISM_SELF_REP.P+T.1e-06)
 PSS009787|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014173 PGS002604
(disease_HYPOTHYROIDISM_SELF_REP.P+T.5e-08)
 PSS009787|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014222 PGS002604
(disease_HYPOTHYROIDISM_SELF_REP.P+T.5e-08)
 PSS009788|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.001 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014271 PGS002604
(disease_HYPOTHYROIDISM_SELF_REP.P+T.5e-08)
 PSS009789|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0015 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014320 PGS002604
(disease_HYPOTHYROIDISM_SELF_REP.P+T.5e-08)
 PSS009790|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0001 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014369 PGS002653
(disease_HYPOTHYROIDISM_SELF_REP.PolyFun-pred)
 PSS009787|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0046 age, sex, age*sex, assessment center, genotyping array, 10 PCs See disease_HYPOTHYROIDISM_SELF_REP.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014418 PGS002653
(disease_HYPOTHYROIDISM_SELF_REP.PolyFun-pred)
 PSS009788|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0129 age, sex, age*sex, assessment center, genotyping array, 10 PCs See disease_HYPOTHYROIDISM_SELF_REP.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014467 PGS002653
(disease_HYPOTHYROIDISM_SELF_REP.PolyFun-pred)
 PSS009789|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0262 age, sex, age*sex, assessment center, genotyping array, 10 PCs See disease_HYPOTHYROIDISM_SELF_REP.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014516 PGS002653
(disease_HYPOTHYROIDISM_SELF_REP.PolyFun-pred)
 PSS009790|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0183 age, sex, age*sex, assessment center, genotyping array, 10 PCs See disease_HYPOTHYROIDISM_SELF_REP.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014565 PGS002702
(disease_HYPOTHYROIDISM_SELF_REP.SBayesR)
 PSS009787|
African Ancestry|
6,503 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0043 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014614 PGS002702
(disease_HYPOTHYROIDISM_SELF_REP.SBayesR)
 PSS009788|
East Asian Ancestry|
922 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0117 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014663 PGS002702
(disease_HYPOTHYROIDISM_SELF_REP.SBayesR)
 PSS009789|
European Ancestry|
43,505 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0206 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014712 PGS002702
(disease_HYPOTHYROIDISM_SELF_REP.SBayesR)
 PSS009790|
South Asian Ancestry|
8,098 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Hypothyroidism — — Incremental R2 (full model vs. covariates alone): 0.0139 age, sex, age*sex, assessment center, genotyping array, 10 PCs —
PPM014966 PGS002766
(Hypothyroidism_prscs)
 PSS009939|
European Ancestry|
39,444 individuals
 PGP000364 |
Mars N et al. Am J Hum Genet (2022)
 Reported Trait: Hypothyroidism OR: 1.47 [1.43, 1.52] — — age, sex, 10 PCs, technical covariates —
PPM020561 PGS004446
(disease.E03.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: E03 (Other hypothyroidism) OR: 1.47851 — — — —
PPM020631 PGS004516
(meta.E03.score)
 PSS011364|
European Ancestry|
56,192 individuals
 PGP000561 |
Jung H et al. Commun Biol (2024)
 Reported Trait: E03 (Other hypothyroidism) OR: 1.49623 — — — —
PPM021014 PGS004789
(hypothyroid_PRSmix_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: Hypothyroidism — — Incremental R2 (Full model versus model with only covariates): 0.041 [0.033, 0.049] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM021015 PGS004790
(hypothyroid_PRSmixPlus_eur)
 PSS011465|
European Ancestry|
9,462 individuals
 PGP000604 |
Truong B et al. Cell Genom (2024)
 Reported Trait: Hypothyroidism — — Incremental R2 (Full model versus model with only covariates): 0.042 [0.034, 0.05] age, sex, PC1, PC2, PC3, PC4, PC5, PC6, PC7, PC8, PC9, PC10 Incremental R2 (Full model versus model with only covariates)
PPM021723 PGS004935
(hypothyroidism_snpnet_combined)
 PSS011762|
European Ancestry|
8,417 individuals
 PGP000665 |
Moreno-Grau S et al. Human Genomics (2024)
 Reported Trait: Hypothyroidism OR: 1.5 [1.41, 1.6] AUROC: 0.7 — — —
PPM022613 PGS005218
(prsweights_hypothyroidism_excl23)
 PSS012042|
European Ancestry|
441,692 individuals
 PGP000733 |
Rand SA et al. Nat Genet (2025)
 Reported Trait: Hypothyroidism OR: 2.01 [1.99, 2.03] — — age, sex, PC1, PC2, PC3, PC4 Evaluated in UKB for both incident and prevalent hypothyroidism
PPM022614 PGS005218
(prsweights_hypothyroidism_excl23)
 PSS012042|
European Ancestry|
441,692 individuals
 PGP000733 |
Rand SA et al. Nat Genet (2025)
 Reported Trait: Hypothyroidism OR: 2.0 [1.95, 2.17] — — age, sex, PC1, PC2, PC3, PC4 Evaluated in GESUS for both incident and prevalent hypothyroidism
PPM022615 PGS005218
(prsweights_hypothyroidism_excl23)
 PSS012042|
European Ancestry|
441,692 individuals
 PGP000733 |
Rand SA et al. Nat Genet (2025)
 Reported Trait: Incident hypothyroidism — AUROC: 0.698 [0.693, 0.703] — age, sex, PC1, PC2, PC3, PC4 Evaluated in UKB for only incident hypothyroidism
PPM022617 PGS005218
(prsweights_hypothyroidism_excl23)
 PSS012042|
European Ancestry|
441,692 individuals
 PGP000733 |
Rand SA et al. Nat Genet (2025)
 Reported Trait: Incident hypothyroidism — AUROC: 0.859 [0.821, 0.897] — age, sex, TSH, T4, anti-TPO, PC1, PC2, PC3, PC4 Evaluated in GESUS which measured anti-TPO and thyroid hormones at baseline. Prevalent hypothyroidism was excluded
PPM022618 PGS005218
(prsweights_hypothyroidism_excl23)
 PSS012042|
European Ancestry|
441,692 individuals
 PGP000733 |
Rand SA et al. Nat Genet (2025)
 Reported Trait: Incident hypothyroidism among anti-TPO negative individuals (anti-TPO < 100 U/mL) — — Hazard ratio (HR, high vs middle percentile): 1.97 [1.06, 3.68] age, sex, PC1, PC2, PC3, PC4 Evaluated in GESUS which measured anti-TPO and thyroid hormones at baseline. Only individuals with anti-TPO < 100 u/mL were considered for this analysis. Prevalent hypothyroidism was excluded
PPM022616 PGS005218
(prsweights_hypothyroidism_excl23)
 PSS012042|
European Ancestry|
441,692 individuals
 PGP000733 |
Rand SA et al. Nat Genet (2025)
 Reported Trait: Progression from subclinical to overt hypothyroidism — — Hazard ratio (HR, high vs middle percentile): 1.43 [1.37, 1.61] age, sex, PC1, PC2, PC3, PC4 Evaluated in UKB primary care date, only in individuals that developed subclinical hypothyroidism after enrollment to UKB. Prevalent hypothyroidism was excluded
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 — — —
PPM036859 PGS018677
(TPMI_244_Lassosum2)
 PSS012586|
East Asian Ancestry|
17,678 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism — AUROC: 0.73906 R²: 0.07946 sex, age, array, PCs 1-10 —
PPM036860 PGS018678
(TPMI_244_LDpred2)
 PSS012585|
East Asian Ancestry|
17,678 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism — AUROC: 0.74175 R²: 0.08137 sex, age, array, PCs 1-10 —
PPM036861 PGS018679
(TPMI_244_MegaPRS)
 PSS012587|
East Asian Ancestry|
17,678 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism — AUROC: 0.73799 R²: 0.0789 sex, age, array, PCs 1-10 —
PPM036862 PGS018680
(TPMI_244_PRS-CS)
 PSS012588|
East Asian Ancestry|
17,678 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism — AUROC: 0.73847 R²: 0.07895 sex, age, array, PCs 1-10 —
PPM036863 PGS018681
(TPMI_244_PRSmix+)
 PSS012589|
East Asian Ancestry|
17,678 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism — AUROC: 0.7484 R²: 0.08739 sex, age, array, PCs 1-10 —
PPM036864 PGS018682
(TPMI_244_SBayesR)
 PSS012590|
East Asian Ancestry|
17,678 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism — AUROC: 0.73809 R²: 0.07802 sex, age, array, PCs 1-10 —
PPM036865 PGS018683
(TPMI_244.4_Lassosum2)
 PSS012580|
East Asian Ancestry|
17,589 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism NOS — AUROC: 0.7441 R²: 0.06904 sex, age, array, PCs 1-10 —
PPM036866 PGS018684
(TPMI_244.4_LDpred2)
 PSS012579|
East Asian Ancestry|
17,589 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism NOS — AUROC: 0.74543 R²: 0.0702 sex, age, array, PCs 1-10 —
PPM036867 PGS018685
(TPMI_244.4_MegaPRS)
 PSS012581|
East Asian Ancestry|
17,589 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism NOS — AUROC: 0.74267 R²: 0.06881 sex, age, array, PCs 1-10 —
PPM036868 PGS018686
(TPMI_244.4_PRS-CS)
 PSS012582|
East Asian Ancestry|
17,589 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism NOS — AUROC: 0.74147 R²: 0.06831 sex, age, array, PCs 1-10 —
PPM036869 PGS018687
(TPMI_244.4_PRSmix+)
 PSS012583|
East Asian Ancestry|
17,589 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism NOS — AUROC: 0.74988 R²: 0.07345 sex, age, array, PCs 1-10 —
PPM036870 PGS018688
(TPMI_244.4_SBayesR)
 PSS012584|
East Asian Ancestry|
17,589 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Hypothyroidism NOS — AUROC: 0.73857 R²: 0.06642 sex, age, array, PCs 1-10 —

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
PSS012042 ICD10: E038, E039, E063 Self-reported hypothyroidism ATC: H03A or dnd codes for levothyroxine Cases excluded ICD10:DE05[0-9] —
[
  • 32,304 cases
  • , 399,000 controls
]
 — European
(White British)		 — UKB —
PSS012042 ICD10: E038, E039, E063 ATC: H03A Excluded individuals with ICD10: E05[0-9] —
[
  • 760 cases
  • , 9,628 controls
]
 — European
(Danish)		 — GESUS —
PSS009286 — — 19,852 individuals — European UK (+ Ireland) UKB —
PSS008390 — — 1,186 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS004555 — —
[
  • 196 cases
  • , 6,301 controls
]
 — African unspecified — UKB —
PSS004556 — —
[
  • 61 cases
  • , 1,643 controls
]
 — East Asian — UKB —
PSS004557 — —
[
  • 1,684 cases
  • , 23,221 controls
]
 — European non-white British ancestry UKB —
PSS004558 — —
[
  • 653 cases
  • , 7,178 controls
]
 — South Asian — UKB —
PSS004559 — —
[
  • 4,577 cases
  • , 62,848 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
PSS011465 — — 9,462 individuals — European — AllofUs —
PSS009060 — — 4,100 individuals — European Poland (NE Europe) UKB —
PSS008168 — — 6,272 individuals — South Asian India (South Asia) UKB —
PSS012579 244.9,E03.9 —
[
  • 509 cases
  • , 17,080 controls
]
,
48.96 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012580 244.9,E03.9 —
[
  • 509 cases
  • , 17,080 controls
]
,
48.96 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012581 244.9,E03.9 —
[
  • 509 cases
  • , 17,080 controls
]
,
48.96 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012582 244.9,E03.9 —
[
  • 509 cases
  • , 17,080 controls
]
,
48.96 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012583 244.9,E03.9 —
[
  • 509 cases
  • , 17,080 controls
]
,
48.96 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012584 244.9,E03.9 —
[
  • 509 cases
  • , 17,080 controls
]
,
48.96 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012585 243, 244,E00, E01.8, E02, E03.0, E03.1, E03.2, E03.3, E03.8, E03.9, E89.0 —
[
  • 598 cases
  • , 17,080 controls
]
,
48.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012586 243, 244,E00, E01.8, E02, E03.0, E03.1, E03.2, E03.3, E03.8, E03.9, E89.0 —
[
  • 598 cases
  • , 17,080 controls
]
,
48.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012587 243, 244,E00, E01.8, E02, E03.0, E03.1, E03.2, E03.3, E03.8, E03.9, E89.0 —
[
  • 598 cases
  • , 17,080 controls
]
,
48.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009787 — — 6,503 individuals — African unspecified — UKB —
PSS009788 — — 922 individuals — East Asian — UKB —
PSS009789 — — 43,505 individuals — European Non-British European UKB —
PSS009790 — — 8,098 individuals — South Asian — UKB —
PSS012588 243, 244,E00, E01.8, E02, E03.0, E03.1, E03.2, E03.3, E03.8, E03.9, E89.0 —
[
  • 598 cases
  • , 17,080 controls
]
,
48.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012589 243, 244,E00, E01.8, E02, E03.0, E03.1, E03.2, E03.3, E03.8, E03.9, E89.0 —
[
  • 598 cases
  • , 17,080 controls
]
,
48.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012590 243, 244,E00, E01.8, E02, E03.0, E03.1, E03.2, E03.3, E03.8, E03.9, E89.0 —
[
  • 598 cases
  • , 17,080 controls
]
,
48.79 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008839 — — 3,876 individuals — African unspecified Nigeria (West Africa) UKB —
PSS000970 — Median = 400.0 days 1,584 individuals — European — GNEHGI2020Q2 —
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)
PSS007955 — — 1,782 individuals — East Asian China (East Asia) UKB —
PSS011762 — — 8,417 individuals — European — BBofA —
PSS011364 — — 56,192 individuals — European — UKB —
PSS009939 — — 39,444 individuals — European
(Finnish)		 — FinnGen —
PSS008614 — — 6,601 individuals — European Italy (South Europe) UKB —
PSS007736 — — 2,434 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 —
PSS001068 Spontaneous hypothyroidism cases and controls were defined using phecodes, which aggregate similar ICD-9-CM and ICD-10-CM. Individuals must have had at least 2 ICD codes for hypothyroidism to be assigned a phecode, and individuals with other thyroid diseases were excluded from the control set. — 51,070 individuals — European — BioVU —
PSS001069 All individuals had non-small cell lung cancer (NSCLC) and were receiving immune checkpoint inhibitor (CPI) therapy. Cases were individuals who had experienced immune-related thyroid dysfunction following CPI therapy. A thyroid event after the start of CPI therapy was defined as either (1) incident hypothyroidism or (2) transient incident hyperthyroidism followed by incident hypothyroidism. Incident hypothyroidism was defined as (a) a TSH of ≥ 10 mU/L or (b) TSH of ≥ 5 mU/L with a new prescription of levothyroxine ≥ 50 mcg. Incident hyperthyroidism was defined as TSH < 0.05 mU/L. Median = 12.0 months
[
  • 42 cases
  • , 519 controls
]
,
44.0 % Male samples
 Median = 67.0 years
IQR = [60.0, 74.0] years		 European, African unspecified, Asian unspecified, Hispanic or Latin American, NR European = 506, African unspecified = 22, Asian unspecified = 17, Not reported = 6, Hispanic or Latin American = 10 NR Cases and controls were obtained from the Dana-Farber Cancer Institute (DFCI)
PSS001070 All individuals had non-small cell lung cancer (NSCLC) and were receiving immune checkpoint inhibitor (CPI) therapy. of the 744 individuals receiving CPI therapy, 659 were being treated with Anti-PD-(L)1 monotherapy whilst 85 were being treated with Anti-PD-(L)1+CTLA-4 combination therapy. Cases were individuals who had experienced immune-related thyroid dysfunction following CPI therapy. A thyroid event after the start of CPI therapy was defined as either (1) incident hypothyroidism or (2) transient incident hyperthyroidism followed by incident hypothyroidism. Incident hypothyroidism was defined as (a) a TSH of ≥ 10 mU/L or (b) TSH of ≥ 5 mU/L with a new prescription of levothyroxine ≥ 50 mcg. Incident hyperthyroidism was defined as TSH < 0.05 mU/L. —
[
  • 95 cases
  • , 649 controls
]
,
50.94 % Male samples
 — European, African unspecified, Asian unspecified, Hispanic or Latin American, NR European = 634, African unspecified = 50, Asian unspecified = 36, Not reported = 4, Hispanic or Latin American = 20 MSKCC Additional cases and controls were obtained from the Vanderbilt University Medical Centre (VUMC)
PSS001071 All individuals had non-small cell lung cancer (NSCLC) and were receiving immune checkpoint inhibitor (CPI) therapy. Cases were individuals who had experienced immune-related thyroid dysfunction following CPI therapy. A thyroid event after the start of CPI therapy was defined as either (1) incident hypothyroidism or (2) transient incident hyperthyroidism followed by incident hypothyroidism. Incident hypothyroidism was defined as (a) a TSH of ≥ 10 mU/L or (b) TSH of ≥ 5 mU/L with a new prescription of levothyroxine ≥ 50 mcg. Incident hyperthyroidism was defined as TSH < 0.05 mU/L. — 634 individuals — European — MSKCC Additional cases and controls were obtained from the Vanderbilt University Medical Centre (VUMC)