| Publication Information (EuropePMC) | |
| Title | Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks. |
| PubMed ID | 38486201(Europe PMC) |
| doi | 10.1186/s12916-024-03305-2 |
| Publication Date | March 14, 2024 |
| Journal | BMC Med |
| Author(s) | Lee YC, Jung SH, Shivakumar M, Cha S, Park WY, Won HH, Eun YG, Biobank PM, Kim D. |
| 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) |
|---|---|---|---|---|---|---|
| PGS012587 (PRS_HNC_OC) |
PGP000822 | Lee YC et al. BMC Med (2024) |
Oral cavity cancer | oral cavity cancer | 972,182 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012587/ScoringFiles/PGS012587.txt.gz |
| PGS012586 (PRS_HNC_all) |
PGP000822 | Lee YC et al. BMC Med (2024) |
Head and neck squamous cell carcinoma | head and neck squamous cell carcinoma | 972,182 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012586/ScoringFiles/PGS012586.txt.gz |
| PGS012588 (PRS_HNC_OPC) |
PGP000822 | Lee YC et al. BMC Med (2024) |
Oropharynx cancer | oropharynx cancer | 972,182 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS012588/ScoringFiles/PGS012588.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 |
|---|---|---|---|---|---|---|---|---|---|
| PPM030758 | PGS012586 (PRS_HNC_all) |
PSS012280| Multi-ancestry (including European)| 38,401 individuals |
PGP000822 | Lee YC et al. BMC Med (2024) |
Reported Trait: Head and neck squamous cell carcinoma | OR: 1.17 [1.07, 1.26] | — | — | age, sex, ethnicity, and PC 1 to 10 | — |
| PPM030759 | PGS012586 (PRS_HNC_all) |
PSS012280| Multi-ancestry (including European)| 38,401 individuals |
PGP000822 | Lee YC et al. BMC Med (2024) |
Reported Trait: Oral cavity cancer | OR: 1.14 [1.06, 1.23] | — | — | age, sex, ethnicity, and PC 1 to 10 | — |
| PPM030761 | PGS012588 (PRS_HNC_OPC) |
PSS012283| Multi-ancestry (including European)| 37,901 individuals |
PGP000822 | Lee YC et al. BMC Med (2024) |
Reported Trait: Oropharynx cancer | OR: 1.24 [1.08, 1.42] | — | — | age, sex, ethnicity, and PC 1 to 10 | — |
| PPM030753 | PGS012586 (PRS_HNC_all) |
PSS012281| European Ancestry| 308,492 individuals |
PGP000822 | Lee YC et al. BMC Med (2024) |
Reported Trait: Head and neck squamous cell carcinoma | OR: 1.12 [1.06, 1.17] | — | — | age, sex, genotype array, and PC 1 to 10 | — |
| PPM030754 | PGS012586 (PRS_HNC_all) |
PSS012281| European Ancestry| 308,492 individuals |
PGP000822 | Lee YC et al. BMC Med (2024) |
Reported Trait: Oral cavity cancer | OR: 1.1 [1.02, 1.17] | — | — | age, sex, genotype array, and PC 1 to 10 | — |
| PPM030755 | PGS012586 (PRS_HNC_all) |
PSS012281| European Ancestry| 308,492 individuals |
PGP000822 | Lee YC et al. BMC Med (2024) |
Reported Trait: Oropharynx cancer | OR: 1.18 [1.08, 1.28] | — | — | age, sex, genotype array, and PC 1 to 10 | — |
| PPM030756 | PGS012587 (PRS_HNC_OC) |
PSS012282| European Ancestry| 307,595 individuals |
PGP000822 | Lee YC et al. BMC Med (2024) |
Reported Trait: Oral cavity cancer | OR: 1.2 [1.1, 1.31] | — | — | age, sex, genotype array, and PC 1 to 10 | — |
| PPM030757 | PGS012588 (PRS_HNC_OPC) |
PSS012284| European Ancestry| 307,295 individuals |
PGP000822 | Lee YC et al. BMC Med (2024) |
Reported Trait: Oropharynx cancer | OR: 1.09 [1.02, 1.17] | — | — | age, sex, genotype array, and PC 1 to 10 | — |
| PPM030760 | PGS012586 (PRS_HNC_all) |
PSS012280| Multi-ancestry (including European)| 38,401 individuals |
PGP000822 | Lee YC et al. BMC Med (2024) |
Reported Trait: Oropharynx cancer | OR: 1.13 [1.05, 1.22] | — | — | age, sex, ethnicity, and PC 1 to 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 |
|---|---|---|---|---|---|---|---|---|
| PSS012280 | — | — | [
|
— | European | — | PMB | — |
| PSS012280 | — | — | [
|
— | African American or Afro-Caribbean | — | PMB | — |
| PSS012281 | — | — | [ ,
45.5 % Male samples |
Mean = 58.0 years Sd = 7.9 years |
European | — | UKB | — |
| PSS012282 | — | — | [
|
— | European | — | UKB | — |
| PSS012283 | — | — | [
|
— | European, African American or Afro-Caribbean | — | PMB | — |
| PSS012284 | — | — | [
|
— | European | — | UKB | — |