| Predicted Trait | |
| Reported Trait | Hypothyroidism (self-reported) |
| Mapped Trait(s) | hypothyroidism (EFO_0004705) |
| Score Construction | |
| PGS Name | PRS_hypothyroidism |
| Development Method | |
| Name | LDpred |
| Parameters | NR |
| Variants | |
| Original Genome Build | NR |
| Number of Variants | 890,908 |
| Effect Weight Type | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000204 |
| Citation (link to publication) | Luo J et al. Clin Cancer Res (2021) |
| Ancestry Distribution | |
| Source of Variant Associations (GWAS) | European: 100% 459,318 individuals (100%) |
| PGS Evaluation | |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) |
|---|---|---|---|
Europe PMC: 29892013 |
[
|
European | UKB |
|
PGS Performance Metric ID (PPM) |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM002193 | 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 | 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 | 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 | 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 | 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 | — |
|
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 | — |
| 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) |