Appendix 1—table 6. Summary of all the association tests for GRS.
All GRS related tests from the main text. The notation of MED12mut + and MED12mut- refer to the numbers of MED12-mutation-positive and -negative tumors, respectively. The tests include Wilcoxon rank-sum and models for linear and negative binomial (NB) regression (variable ~GRS). The P values were adjusted for FWER with the Holm-Bonferroni method (Q). Significant associations (Q < 0.05) are shown bolded. Note that population association tests include only the female controls.
| GRS * | Cohort | Variable | Test | N cases | N controls | Rate ratio | P | Q |
|---|---|---|---|---|---|---|---|---|
| Stage 1 | Helsinki | UL phenotype | Rank-sum (one-tailed) | 457 | 8899 | - | 8.3e-10 | 1.1e-08 |
| Stage 2 | NFBC | UL phenotype | Rank-sum (one-tailed) | 459 | 2351 | - | 1.1e-05 | 1.1e-04 |
| Stage 2 | Helsinki | Total number of ULs | NB | 457 | - | 1.25 | 0.00105 | 0.0032 |
| Stage 2 | Helsinki | Age at hysterectomy | Linear | 392 | - | 0.50 | 0.48 | 0.48 |
| Stage 2 | Helsinki | Number of MED12mut+ | NB | 457 | - | 1.43 | 3.2e-04 | 0.002 |
| Stage 2 | Helsinki | Number of MED12mut- | NB | 457 | - | 0.79 | 0.0266 | 0.053 |
| Stage 2 | Helsinki | One-or-more MED12mut+ | Rank-sum | 334 | 123 | - | 5.3e-04 | 0.0026 |
| Stage 2 | Helsinki | All MED12mut+ | Rank-sum | 221 | 123 | - | 7.9e-04 | 0.0032 |
| Stage 2 | African # | UL phenotype | Rank-sum (one-tailed) | 296 | 1256 | - | 1.3e-05 | 1.2e-04 |
| Stage 2 | Caribbean# | UL phenotype | Rank-sum (one-tailed) | 668 | 2041 | - | 6.7e-05 | 5.4e-04 |
| Stage 2 | Irish # | UL phenotype | Rank-sum (one-tailed) | 398 | 6208 | - | 8.3e-06 | 9.1e-05 |
| Stage 2 | Indian # | UL phenotype | Rank-sum (one-tailed) | 203 | 2567 | - | 2.9e-04 | 0.0020 |
| Stage 2 | Other white # | UL phenotype | Rank-sum (one-tailed) | 647 | 8982 | - | 6.9e-09 | 8.3e-08 |
*Based either on stage 1 (UKBB GWAS) or stage 2 (meta-analysis of UKBB and Helsinki).
# An independent subset of UKBB data (stratified based on self-reported UKBB annotation).