| Publication Information (EuropePMC) | |
| Title | Assessing thyroid cancer risk using polygenic risk scores. |
| PubMed ID | 32132206(Europe PMC) |
| doi | 10.1073/pnas.1919976117 |
| Publication Date | March 4, 2020 |
| Journal | Proc Natl Acad Sci U S A |
| Author(s) | Liyanarachchi S, Gudmundsson J, Ferkingstad E, He H, Jonasson JG, Tragante V, Asselbergs FW, Xu L, Kiemeney LA, Netea-Maier RT, Mayordomo JI, Plantinga TS, Hjartarson H, Hrafnkelsson J, Sturgis EM, Brock P, Nabhan F, Thorleifsson G, Ringel MD, Stefansson K, de la Chapelle A. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000207 (TC10_Ohio) |
PGP000085 | Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020) |
Thyroid cancer | thyroid carcinoma | 10 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000207/ScoringFiles/PGS000207.txt.gz |
| PGS000209 (TC10_UKB) |
PGP000085 | Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020) |
Thyroid cancer | thyroid carcinoma | 10 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000209/ScoringFiles/PGS000209.txt.gz |
| PGS000208 (TC10_Iceland) |
PGP000085 | Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020) |
Thyroid cancer | thyroid carcinoma | 10 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000208/ScoringFiles/PGS000208.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM000633 | PGS000209 (TC10_UKB) |
PSS000343| European Ancestry| 408,479 individuals |
PGP000085 | Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020) |
Reported Trait: Thyroid cancer | — | AUROC: 0.694 [0.673, 0.716] | — | gender, birth year | AUROC (Clinical factors alone) = 0.629 [0.606 - 0.651] |
| PPM000632 | PGS000208 (TC10_Iceland) |
PSS000341| European Ancestry| 130,279 individuals |
PGP000085 | Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020) |
Reported Trait: Thyroid cancer | — | AUROC: 0.751 [0.736, 0.768] | — | gender, birth year, family history of disease (1st or 2nd degree relative) | AUROC (Clinical factors alone) = 0.697 [0.680 - 0.714] |
| PPM000631 | PGS000207 (TC10_Ohio) |
PSS000342| European Ancestry| 3,137 individuals |
PGP000085 | Liyanarachchi S et al. Proc Natl Acad Sci U S A (2020) |
Reported Trait: Thyroid cancer | — | AUROC: 0.692 [0.673, 0.71] | — | gender, birth year, family history of disease (1st or 2nd degree relative) | AUROC (Clinical factors alone) = 0.585 [0.565 - 0.605] |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS000341 | Cases were ascertained using ICD-10 C73 (PTC, FTC, cancer/carcinoma, and rare nonmedullary) | — | [ ,
46.41 % Male samples |
— | European | — | deCODE | — |
| PSS000342 | Histologically confirmed papillary or follicular thyroid carcinoma (PTC) patients (including traditional PTC and follicular variant PTC) | — | [ ,
26.08 % Male samples |
— | European | — | NR | — |
| PSS000343 | Cases were ascertained using ICD-10 C73 (PTC, FTC, cancer/carcinoma, and rare nonmedullary) | — | [ ,
45.97 % Male samples |
— | European | — | UKB | — |