Table 2.
SNP | Allelesa | Region | Genotypingb | MAFc | HWEd | All women |
Premenopausal womenf |
Postmenopausal womeng |
|||
---|---|---|---|---|---|---|---|---|---|---|---|
B OR (95% CI)e | P valuee | B OR (95% CI)e | P valuee | B OR (95% CI)e | P value | ||||||
rs9989407 | T/C | Promoter | Affy 6.0 | 25.8 | 0.560 | 1.1 (1.0–1.2) | 0.334 | 1.0 (0.9–1.1) | 0.673 | 1.2 (1.0–1.4) | 0.045 |
rs9940250 | T/C | Promoter | Targeted | 27.9 | 0.905 | 1.0 (0.8–1.1) | 0.594 | 0.9 (0.8–1.1) | 0.427 | 1.0 (0.8–1.3) | 0.849 |
rs7196495 | T/C | Intron 2 | Affy 6.0 | 25.9 | 0.630 | 1.0 (0.9–1.1) | 0.409 | 1.0 (0.9–1.1) | 0.635 | 1.2 (1.0–1.3) | 0.065 |
rs7196661 | T/C | Intron 2 | Affy 6.0 | 25.9 | 0.630 | 1.0 (0.9–1.1) | 0.416 | 1.0 (0.9–1.1) | 0.637 | 1.2 (1.0–1.3) | 0.069 |
rs11865026 | T/C | Intron 2 | Affy 6.0 | 24.2 | 0.976 | 1.0 (0.9–1.1) | 0.671 | 1.0 (0.9–1.2) | 0.627 | 0.9 (0.8–1.1) | 0.216 |
rs7203337 | G/C | Intron 2 | Affy 6.0 | 49.8 | 0.630 | 1.0 (0.9–1.1) | 0.724 | 1.0 (0.9–1.1) | 0.999 | 1.0 (0.8–1.1) | 0.569 |
rs1078621 | C/T | Intron 2 | Affy 6.0 | 49.2 | 0.155 | 1.0 (0.9–1.1) | 0.449 | 1.0 (0.9–1.1) | 0.923 | 0.9 (0.8–1.0) | 0.177 |
rs11642413 | G/A | Intron 2 | Targeted | 48.4 | 0.803 | 1.0 (0.9–1.2) | 0.658 | 1.0 (0.9–1.2) | 0.697 | 1.0 (0.8–1.3) | 0.856 |
rs9941051 | T/C | Intron 2 | Affy 6.0 | 25.7 | 0.423 | 1.0 (0.9–1.1) | 0.428 | 1.0 (0.9–1.1) | 0.712 | 1.1 (1.0–1.3) | 0.097 |
rs8056538 | G/A | Intron 2 | Affy 6.0 | 24.1 | 0.804 | 1.0 (0.9–1.1) | 0.949 | 1.1 (0.9–1.2) | 0.417 | 0.9 (0.8–1.1) | 0.280 |
rs12444784 | A/G | Intron 2 | Both | 8.2 | 0.069 | 0.9 (0.8–1.1) | 0.352 | 0.8 (0.7–1.0) | 0.058 | 1.1 (0.9–1.5) | 0.342 |
rs12930371 | C/T | Intron 2 | Affy 6.0 | 24.1 | 0.548 | 1.0 (0.9–1.1) | 0.966 | 1.1 (0.9–1.2) | 0.308 | 0.9 (0.8–1.1) | 0.283 |
rs2113200 | T/A | Intron 2 | Affy 6.0 | 24.5 | 0.864 | 1.0 (0.9–1.1) | 0.723 | 1.0 (0.9–1.2) | 0.554 | 0.9 (0.8–1.1) | 0.203 |
rs9929498 | G/A | Intron 2 | Targeted | 26.4 | 0.729 | 1.0 (0.9–1.1) | 0.841 | 1.0 (0.8–1.1) | 0.686 | 1.0 (0.8–1.3) | 0.918 |
rs2059254 | C/T | Intron 2 | Both | 16.6 | 0.469 | 1.0 (0.9–1.2) | 0.690 | 1.2 (1.0–1.4) | 0.029 | 0.8 (0.7–1.0) | 0.049 |
rs9925923 | C/T | Intron 2 | Affy 6.0 | 17.1 | 0.578 | 1.0 (0.9–1.2) | 0.678 | 1.2 (1.0–1.4) | 0.024 | 0.8 (0.7–1.0) | 0.049 |
rs12919719 | C/G | Intron 2 | Both | 17.6 | 0.792 | 1.0 (0.9–1.1) | 0.913 | 1.2 (1.0–1.4) | 0.057 | 0.8 (0.7–1.0) | 0.044 |
rs4076177 | A/G | Intron 2 | Targeted | 20.8 | 0.668 | 1.1 (0.9–1.2) | 0.508 | 1.1 (0.9–1.3) | 0.307 | 1.0 (0.8–1.3) | 0.904 |
rs12599393 | C/T | Intron 2 | Affy 6.0 | 17.1 | 0.638 | 1.0 (0.9–1.1) | 0.752 | 1.1 (1.0–1.3) | 0.129 | 0.8 (0.7–1.0) | 0.020 |
rs1862748 | C/T | Intron 2 | Both | 18.1 | 0.707 | 1.0 (0.9–1.1) | 0.834 | 1.1 (1.0–1.3) | 0.100 | 0.8 (0.7–1.0) | 0.027 |
rs10431923 | T/G | Intron 2 | Affy 6.0 | 45.2 | 0.311 | 1.0 (1.0–1.2) | 0.424 | 1.1 (1.0–1.2) | 0.222 | 1.0 (0.9–1.1) | 0.875 |
rs10431924 | C/T | Intron 2 | Targeted | 44.7 | 0.735 | 1.0 (0.9–1.2) | 0.631 | 1.1 (0.9–1.2) | 0.355 | 1.0 (0.8–1.2) | 0.703 |
rs4783573 | G/A | Intron 2 | Both | 21.9 | 0.370 | 1.0 (0.9–1.1) | 0.545 | 1.0 (0.9–1.2) | 0.598 | 1.0 (0.9–1.2) | 0.707 |
rs7188750 | G/A | Intron 5 | Both | 18.5 | 0.226 | 1.0 (0.9–1.2) | 0.573 | 0.9 (0.8–1.1) | 0.354 | 1.2 (1.0–1.4) | 0.052 |
rs8059139 | A/G | Intron 6 | Both | 11.1 | 0.326 | 1.0 (0.9–1.2) | 0.758 | 1.0 (0.8–1.2) | 0.627 | 1.1 (0.9–1.4) | 0.339 |
rs3785076 | A/G | Intron 10 | Targeted | 11.7 | 0.327 | 1.0 (0.8–1.2) | 0.895 | 1.1 (0.8–1.3) | 0.684 | 0.9 (0.7–1.3) | 0.636 |
rs4783689 | C/T | Intron 11 | Both | 32.9 | 0.250 | 1.0 (1.0–1.1) | 0.372 | 1.1 (1.0–1.2) | 0.134 | 1.0 (0.8–1.1) | 0.668 |
rs16958383 | G/A | Intron 12 | Targeted | 20.7 | 0.542 | 1.0 (0.8–1.1) | 0.514 | 0.8 (0.7–1.0) | 0.020 | 1.3 (1.0–1.7) | 0.062 |
rs10500545 | A/T | Intron 13 | Targeted | 12.6 | 0.989 | 1.0 (0.8–1.2) | 0.692 | 0.9 (0.7–1.1) | 0.194 | 1.1 (0.8–1.5) | 0.415 |
rs9935563 | C/T | Intron 13 | Targeted | 35.7 | 0.620 | 1.0 (0.9–1.1) | 0.690 | 1.1 (0.9–1.3) | 0.213 | 0.8 (0.6–1.0) | 0.041 |
rs9925080 | G/A | Intron 13 | Affy 6.0 | 9.3 | 0.182 | 1.0 (0.9–1.1) | 0.724 | 0.9 (0.7–1.1) | 0.281 | 1.1 (0.9–1.4) | 0.519 |
rs9925161 | G/A | Intron 13 | Both | 9.3 | 0.111 | 1.0 (0.9–1.1) | 0.879 | 0.9 (0.7–1.1) | 0.304 | 1.1 (0.9–1.4) | 0.377 |
rs8061932 | T/C | Intron 14 | Both | 22.8 | 0.855 | 1.0 (0.9–1.1) | 0.623 | 0.9 (0.8–1.0) | 0.073 | 1.1 (1.0–1.3) | 0.176 |
rs3785078 | A/C | Intron 14 | Targeted | 13.7 | 0.585 | 0.9 (0.8–1.1) | 0.465 | 0.9 (0.7–1.1) | 0.223 | 1.1 (0.8–1.5) | 0.634 |
rs9927789 | A/C | Intron 14 | Targeted | 19.0 | 0.214 | 1.0 (0.9–1.2) | 0.888 | 0.9 (0.8–1.1) | 0.565 | 1.1 (0.9–1.5) | 0.396 |
rs7203904 | G/C | Intron 14 | Targeted | 32.5 | 0.706 | 1.0 (0.9–1.1) | 0.896 | 0.9 (0.8–1.0) | 0.128 | 1.2 (1.0–1.5) | 0.098 |
rs2276329 | T/C | Intron 14 | Both | 9.7 | 0.257 | 1.0 (0.9–1.2) | 0.952 | 0.9 (0.8–1.1) | 0.582 | 1.1 (0.9–1.3) | 0.511 |
rs13689 | T/C | 3′ UTR | Affy 6.0 | 19.0 | 0.397 | 1.0 (0.9–1.1) | 0.760 | 0.9 (0.8–1.1) | 0.220 | 1.2 (1.0–1.4) | 0.062 |
rs17690554 | C/G | 3′ FRh | Affy 6.0 | 19.1 | 0.399 | 1.0 (0.9–1.2) | 0.834 | 0.9 (0.8–1.1) | 0.214 | 1.2 (1.0–1.4) | 0.082 |
rs12447341 | C/T | 3′ FRh | Targeted | 29.0 | 0.698 | 1.0 (0.9–1.1) | 0.507 | 1.1 (0.9–1.3) | 0.474 | 0.8 (0.6–1.0) | 0.057 |
Major/minor alleles as determined by allele frequency among genotyped controls
Genotyping and study phase: Affymetrix targeted genotyping among 1,062 cases and 1,069 controls from phase 1 (Targeted), or Affymetrix 6.0 genotyping among 1,104 cases and 1,109 controls from Phase 1 and 969 cases and 975 controls from phase 2 (Affy 6.0), or genotyped by both (Both)
Minor allele freqency among genotyped controls
Hardy–Weinberg equilibrium test among controls
Risk of breast cancer per minor allele, adjusted for age, education, and study phase (when appropriate); A major allele, B minor allele; P value for trend
Premenopausal Women: 717 cases and 692 controls from phase 1 (Targeted), or 745 caes and 758 controls from phase 1 and 528 cases and 516 controls from phase 2 (Affy 6.0)
Postmenopausal Women: 345 cases and 377 controls from phase 1 (Targeted), or 369 caes and 419 controls from phase 1 and 441 cases and 459 controls from phase 2 (Affy 6.0)
3′ FR: 3′ flanking region, downstream of the CDH1 gene
Bold values considered to be significant P ≤ 0.05