Table 1.
Significant associations of HNSCC PRS with PheWAS in the UK Biobank that were also replicated in the Penn Medicine Biobank
| Phenotype description | UK Biobanka |
Penn Medicine Biobankb (replication cohort) |
|||
|---|---|---|---|---|---|
| No. of cases (prevalence, %) | OR per SD increase (95% CI) | P-value | OR per SD increase (95% CI) | P-value | |
| HNSCC PRS | |||||
| Tobacco use disorder | 20,599 (6.7%) | 1.06 (1.05–1.08) | 3.50 × 10−15 | 1.04 (1.02–1.07) | 1.05 × 10−3 |
| Alcoholism | 9636 (3.1%) | 1.06 (1.04–1.09) | 6.14 × 10−9 | 1.11 (1.01–1.22) | 2.29 × 10−2 |
| Alcohol-related disorders | 6015 (1.9%) | 1.08 (1.05–1.11) | 1.09 × 10−8 | 1.11 (1.02–1.22) | 2.22 × 10−2 |
| Emphysema | 2096 (0.7%) | 1.11 (1.06–1.16) | 5.48 × 10−6 | 1.10 (1.03–1.16) | 2.44 × 10−3 |
| Chronic airway obstruction | 9151 (3.0%) | 1.05 (1.03–1.07) | 2.64 × 10−5 | 1.08 (1.04–1.11) | 2.16 × 10−5 |
| Cancer of bronchus; lung | 2781 (0.9%) | 1.08 (1.04–1.13) | 4.68 × 10−5 | 1.12 (1.05–1.19) | 4.44 × 10−4 |
| OPC PRS | |||||
| Tobacco use disorder | 20,599 (6.7%) | 1.06 (1.04–1.07) | 2.85 × 10−13 | 1.04 (1.02–1.07) | 1.43 × 10−3 |
| Cancer of bronchus; lung | 2781 (0.9%) | 1.09 (1.05–1.13) | 1.27 × 10−5 | 1.07 (1.01–1.14) | 2.05 × 10−2 |
| Chronic airway obstruction | 9151 (3.0%) | 1.05 (1.02–1.07) | 4.32 × 10−5 | 1.04 (1.01–1.08) | 1.20 × 10−2 |
| OC PRS | |||||
| Tobacco use disorder | 20,599 (6.7%) | 1.04 (1.02–1.05) | 3.20 × 10−7 | 1.04 (1.02–1.07) | 1.48 × 10−3 |
Abbreviations: HNSCC, head and neck squamous cell carcinoma; OC, oral cavity cancer; OPC, oropharynx; PRS, polygenic risk score; SD, standard deviation; OR, odds ratio; CI, confidence interval; PC, principal component
aMultivariable regression analysis was adjusted by age, sex, genotype array, and PC 1 to 10
bMultivariable regression analysis was adjusted by age, sex, ethnicity, and PC 1 to 10