| Experimental Factor Ontology (EFO) Information | |
| Identifier | EFO_0004705 |
| Description | Abnormally low levels of thyroid hormone. [NCIT: P378] | Trait category |
Other disease
|
| Synonyms |
5 synonyms
|
| Mapped terms |
15 mapped terms
|
| Child trait(s) | myxedema |
| 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 |
|
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 | — | — | — |
|
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] | — | [
|
— | European (White British) |
— | UKB | — |
| PSS012042 | ICD10: E038, E039, E063 ATC: H03A Excluded individuals with ICD10: E05[0-9] | — | [
|
— | 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 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004556 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004557 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004558 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004559 | — | — | [
|
— | 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 | — |
| 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 | — |
| PSS008839 | — | — | 3,876 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
| PSS000970 | — | Median = 400.0 days | 1,584 individuals | — | European | — | GNEHGI2020Q2 | — |
| PSS004354 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004355 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004356 | — | — | [
|
— | European | non-white British ancestry | UKB | — |
| PSS004357 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004358 | — | — | [
|
— | 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 | [ ,
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. | — | [ ,
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) |