Table 1.
Gene-level AML test and most significantly associated SNP (MAFa ≥ 0.05) in each gonadotropin signaling gene for all invasive ovarian cancers.
| Gene | Coverage (at imputation r2 = 0.8) | Number of SNPs | Number of significant SNPs (at =0.05) | AML burden testb | Most significant SNP | MAFa | Imputation r2 | ORc | p-Value |
|---|---|---|---|---|---|---|---|---|---|
| ACVR1 | 0.55 | 101 | 1 | 0.73 | rs35160507 | 0.07 | 0.77 | 1.07 | 0.030 |
| ACVR2 | 0.98 | 163 | 1 | 0.52 | rs17742573 | 0.07 | 0.56 | 0.93 | 0.046 |
| CGA | 0.97 | 140 | 15 | 0.29 | rs7745823 | 0.24 | 0.83 | 0.96 | 0.035 |
| FSHB | 0.99 | 111 | 18 | 0.036 | rs12805742 | 0.22 | 0.94 | 1.04 | 0.018 |
| FSHR | 0.90 | 746 | 15 | 0.57 | chr2:49204261:D | 0.07 | 0.70 | 0.91 | 0.007 |
| GNRH | 1.00 | 108 | 0 | 0.65 | N/A | – | – | – | – |
| GNRHR | 0.94 | 126 | 0 | 0.59 | N/A | – | – | – | – |
| INHA | 0.86 | 81 | 15 | 0.060 | rs12720063 | 0.21 | 1.00 | 0.95 | 0.007 |
| INHBA | 1.00 | 77 | 1 | 0.80 | rs17776182 | 0.15 | 1.00 | 0.95 | 0.010 |
| INHBB | 0.82 | 109 | 22 | 0.098 | rs11900747 | 0.06 | 0.55 | 1.13 | 0.004 |
| LHCGR | 0.97 | 423 | 52 | 0.091 | rs72618637 | 0.19 | 0.68 | 1.07 | 0.001 |
| Global | – | 2185 | 140 | 0.33 | – | – | – | – | – |
Note: “N/A” reflects genes with no significant SNPs at p ≥ 0.05. “Global” refers to when all genes are considered.
a
MAF = minor allele frequency.
b
AML = admixture maximum likelihood, taking into account the first five ancestry principal components; p-values for trend reported.
c
OR = per allele odds ratio, taking into account study set and the first five ancestry principal components.