Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks.

ABSTRACT:

Background

Numerous observational studies have highlighted associations of genetic predisposition of head and neck squamous cell carcinoma (HNSCC) with diverse risk factors, but these findings are constrained by design limitations of observational studies. In this study, we utilized a phenome-wide association study (PheWAS) approach, incorporating a polygenic risk score (PRS) derived from a wide array of genomic variants, to systematically investigate phenotypes associated with genetic predisposition to HNSCC. Furthermore, we validated our findings across heterogeneous cohorts, enhancing the robustness and generalizability of our results.

Methods

We derived PRSs for HNSCC and its subgroups, oropharyngeal cancer and oral cancer, using large-scale genome-wide association study

SUBMITTER: Lee YC 

PROVIDER: S-EPMC10941505 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature