| Experimental Factor Ontology (EFO) Information | |
| Identifier | EFO_0009933 |
| Description | Quantification of some aspect of the use of thyroid preparations. | Trait category |
Other measurement
|
| Mapped term | PMID:31015401 |
| 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) |
|---|---|---|---|---|---|---|
| PGS000821 (PRS_hypomed) |
PGP000204 | Luo J et al. Clin Cancer Res (2021) |
Thyroid medication use | Thyroid preparation use measurement | 872,391 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000821/ScoringFiles/PGS000821.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM002194 | PGS000821 (PRS_hypomed) |
PSS001068| European Ancestry| 51,070 individuals |
PGP000204 | Luo J et al. Clin Cancer Res (2021) |
Reported Trait: Spontaneous hypothyroidism | — | AUROC: 0.6 | — | Age, sex, PCs(1-10) | — |
| PPM002200 | PGS000821 (PRS_hypomed) |
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 | — | AUROC: 0.7 | — | Age, sex, PCs(1-10) | — |
| PPM002196 | PGS000821 (PRS_hypomed) |
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: 1.32 [1.07, 1.63] | — | — | Age, sex, PCs(1-10) | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| 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 | — |
| 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) |