Table 4 Associations between estrogen receptor-alpha (ESR1) polymorphisms and breast cancer risk in the BBD cohort
| Â | Â | Cancer | No Cancer | Â | Â | ||
|---|---|---|---|---|---|---|---|
| Â | dbSNP rs# | (n = 91) | (n = 1347) | All Participants | Post-menopausal Only | ||
| Â | Â | n | % | n | % | Age- Adjusted OR (95% CI) | Age-Adjusted OR (95% CI) |
ESR1 Pro325Pro | 1801132 | Â | Â | Â | Â | Â | Â |
   CC |  | 52 | 57.1 | 794 | 58.9 | 1.00 | 1.00 |
   CG |  | 31 | 34.1 | 440 | 32.7 | 1.07 (0.67, 1.69) | 1.06 (0.61, 1.87) |
   GG |  | 7 | 7.7 | 64 | 4.8 | 1.65 (0.72, 3.78) | 2.03 (0.81, 5.10) |
   CG/GG |  | 38 | 41.8 | 504 | 37.4 | 1.14 (0.74, 1.76) | 1.19 (0.70, 2.01) |
   Missing |  | 1 | 1.1 | 49 | 3.6 |  |  |
ESR1 Ser10Ser | 2077647 | Â | Â | Â | Â | Â | Â |
   TT |  | 26 | 28.6 | 335 | 24.9 | 1.00 | 1.00 |
   TC |  | 36 | 39.6 | 642 | 47.7 | 0.71 (0.42, 1.20) | 0.90 (0.46, 1.77) |
   CC |  | 27 | 29.7 | 304 | 22.6 | 1.14 (0.65, 1.99) | 1.88 (0.94, 3.75) |
   TC/CC |  | 63 | 69.2 | 946 | 68.8 | 0.85 (0.53, 1.37) | 1.21 (0.65, 2.24) |
   Missing |  | 2 | 2.2 | 66 | 4.8 |  |  |
ESR1 Ala87Ala | 746432 | Â | Â | Â | Â | Â | Â |
   GG |  | 67 | 73.6 | 1077 | 80.0 | 1.00 | 1.00 |
   GC |  | 15 | 16.5 | 181 | 13.4 | 1.32 (0.74, 2.36) | 1.24 (0.61, 2.51) |
   CC |  | 1 | 1.1 | 7 | 0.5 | 2.30 (0.28, 18.95) | 3.34 (0.38, 29.18) |
p-for-trend | Â | Â | Â | Â | Â | 0.3 | 0.3 |
   GC/CC |  | 16 | 17.6 | 188 | 14.0 | 1.36 (0.77, 2.39) | 1.31 (0.66, 2.60) |
   Missing |  | 8 | 8.8 | 82 | 6.1 |  |  |
ESR1 IVS6+52 | 2273206 | Â | Â | Â | Â | Â | Â |
   GG |  | 69 | 75.8 | 1060 | 78.7 | 1.00 | 1.00 |
   GT |  | 13 | 14.3 | 229 | 17.0 | 0.86 (0.48, 1.59) | 0.71 (0.33, 1.53) |
   TT |  | 3 | 3.3 | 10 | 0.7 | 4.79 (1.29, 17.88) | 5.31 (1.04, 27.28) |
   GT/TT |  | 16 | 17.6 | 239 | 17.7 | 1.02 (0.58, 1.79) | 0.86 (0.43, 1.73) |
   Missing |  | 6 | 6.6 | 48 | 3.6 |  |  |
ESR1 Thr594Thr | 2228480 | Â | Â | Â | Â | Â | Â |
   AA |  | 2 | 2.2 | 41 | 3.0 | 1.00 | 1.00 |
   AG |  | 20 | 22.0 | 358 | 26.6 | 1.14 (0.26, 5.05) | 0.88 (0.19, 4.04) |
   GG |  | 58 | 63.7 | 841 | 62.4 | 1.42 (0.34, 6.01) | 0.86 (0.20, 3.77) |
   AG/GG |  | 78 | 85.7 | 1199 | 89.0 | 1.34 (0.32, 5.62) | 0.87 (0.20, 3.75) |
   Missing |  | 11 | 12.1 | 107 | 7.9 |  |  |
ESR1 – 104062C>T | 851982 |  |  |  |  |  |  |
   CC |  | 38 | 41.8 | 470 | 34.9 | 1.00 | 1.00 |
   CT |  | 33 | 36.3 | 612 | 45.4 | 0.65 (0.40, 1.05) | 0.55 (0.30, 0.99) |
   TT |  | 14 | 15.4 | 190 | 14.1 | 0.88 (0.47, 1.67) | 0.89 (0.43, 1.85) |
   CT/TT |  | 47 | 51.6 | 802 | 59.5 | 0.70 (0.45, 1.09) | 0.63 (0.37, 1.08) |
   Missing |  | 6 | 6.6 | 75 | 5.6 |  |  |