Table 2 Genotype and allele frequencies of rs895819, rs11614913, rs6505162, rs4919510 and rs2682818 in BRCA1/2-negative breast cancer cases and controls
|  |  | All BC cases (n = 440) | Families with ≥2 BC and/or OC cases (n = 269) | Families with a single case, diagnosed at ≤50 years of age (n = 171) | ||||||
Genotype or allele | Controls (%) (n = 807) | BC cases (%) | p-valuea | OR [95 % CI] | BC cases (%) | p-valuea | OR [95 % CI] | BC cases (%) | p-valuea | OR [95 % CI] |
rs895819 (Pre-miR 27a) | ||||||||||
 A/A | 432 (53 %) | 245 (56 %) | - | 1.0 (ref) | 146 (54 %) | - | 1.0 (ref) | 99 (58 %) | - | 1.0 (ref) |
 A/G | 298 (37 %) | 166 (38 %) | 0.9 | 0.9 [0.7–1.2] | 105 (39 %) | 0.8 | 1.0 [0.7–1.3] | 61 (36 %) | 0.5 | 0.8 [0.6–1.2] |
 G/G | 77 (10 %) | 29 (6 %) | 0.08 | 0.6 [0.4–1.0] | 18 (7 %) | 0.1 | 0.6 [0.4–1.1] | 11 (6 %) | 0.1 | 0.6 [0.3–1.2] |
 A/G + G/G | 375 (47 %) | 195 (44 %) | 0.4 | 0.9 [0.7–1.1] | 123 (46 %) | 0.8 | 0.9 [0.7–1.2] | 72 (42 %) | 0.3 | 0.8 [0.6–1.1] |
 Allele A | 1162 (0.72) | 656 (0.75) | - | 1.0 (ref) | 397 (0.74) | - | 1.0 (ref) | 259 (0.76) | - | 1.0 (ref) |
 Allele G | 452 (0.28) | 224 (0.25) | 0.1 | 0.8 [0.7–1.0] | 141 (0.26) | 0.4 | 0.9 [0.7–1.1] | 83 (0.24) | 0.1 | 0.8 [0.6–1.0] |
rs11614913 (Pre-miR 196a2) | ||||||||||
 C/C | 342 (42 %) | 192 (44 %) | - | 1.0 (ref) | 113 (42 %) | - | 1.0 (ref) | 79 (46 %) | - | 1.0 (ref) |
 C/T | 351 (44 %) | 191 (43 %) | 0.8 | 0.9 [0.7–1.2] | 127 (47 %) | 0.5 | 1.0 [0.8–1.4] | 64 (38 %) | 0.2 | 0.7 [0.5–1.1] |
 T/T | 114 (14 %) | 57 (13 %) | 0.5 | 0.8 [0.6–1.2] | 29 (11 %) | 0.3 | 0.7 [0.4–1.2] | 28 (16 %) | 0.8 | 1.0 [0.6–1.7] |
 C/T + T/T | 465 (58 %) | 248 (56 %) | 0.6 | 0.9 [0.7–1.2] | 156 (58 %) | 0.9 | 1.0 [0.7–1.3] | 92 (54 %) | 0.3 | 0.8 [0.6–1.1] |
 Allele C | 1035 (0.64) | 575 (0.65) | - | 1.0 (ref) | 353 (0.66) | - | 1.0 (ref) | 234 (0.66) | - | 1.0 (ref) |
 Allele T | 579 (0.36) | 305 (0.35) | 0.5 | 0.9 [0.8–1.1] | 185 (0.34) | 0.5 | 0.9 [0.7–1.1] | 120 (0.34) | 0.5 | 0.9 [0.7–1.1] |
rs6505162 (Pre-miR 423) | ||||||||||
 C/C | 284 (35 %) | 125 (28 %) | - | 1.0 (ref) | 74 (28 %) | - | 1.0 (ref) | 51 (30 %) | - | 1.0 (ref) |
 C/A | 385 (48 %) | 229 (52 %) | 0.02 | 1.3 [1.0–1.8] | 141 (52 %) | 0.03 | 1.4 [1.0–1.9] | 88 (51 %) | 0.2 | 1.3 [0.9–1.9] |
 A/A | 138 (17 %) | 86 (20 %) | 0.05 | 1.4 [1.0–1.9] | 54 (20 %) | 0.05 | 1.5 [1.0–2.3] | 32 (19 %) | 0.3 | 1.3 [0.8–2.1] |
 C/A + A/A | 523 (65 %) | 315 (72 %) | 0.01 | 1.4 [1.2–1.8] | 195 (72 %) | 0.02 | 1.4 [1.0–1.9] | 120 (70 %) | 0.1 | 1.3 [0.9–1.8] |
 Allele C | 953 (0.59) | 479 (0.54) | - | 1.0 (ref) | 289 (0.54) | - | 1.0 (ref) | 190 (0.56) | - | 1.0 (ref) |
 Allele A | 661 (0.41) | 401 (0.46) | 0.02 | 1.2 [1.0–1.4] | 249 (0.46) | 0.03 | 1.2 [1.0–1.5] | 152 (0.44) | 0.2 | 1.1 [0.9–1.4] |
|  |  | All BC cases (n = 440) | Families with ≥2 BC and/or OC cases (n = 269) | Families with a single case, diagnosed at ≤50 years of age (n = 171) | ||||||
Genotype or allele | Controls (%) (n = 807) | BC cases (%) | p-valuea | OR [95 % CI] | BC cases (%) | p-valuea | OR [95 % CI] | BC cases (%) | p-valuea | OR [95 % CI] |
rs4919510 (miR 608) | ||||||||||
 C/C | 431 (53.4 %) | 226 (51 %) | - | 1.0 (ref) | 141 (52 %) | - | 1.0 (ref) | 85 (50 %) | - | 1.0 (ref) |
 C/G | 310 (38.4 %) | 174 (40 %) | 0.6 | 1.0 [0.8–1.4] | 104 (39 %) | 0.8 | 1.0 [0.7–1.3] | 70 (41 %) | 0.4 | 1.1 [0.8–1.6] |
 G/G | 66 (8.2 %) | 40 (9 %) | 0.5 | 1.1 [0.7–1.7] | 24 (9 %) | 0.6 | 1.1 [0.6–1.8] | 16 (9 %) | 0.5 | 1.2 [0.6–2.2] |
 G/G + C/G | 376 (46.6 %) | 214 (49 %) | 0.5 | 1.0 [0.8–1.3] | 128 (48 %) | 0.7 | 1.0 [0.7–1.3] | 86 (50 %) | 0.4 | 1.1 [0.8–1.6] |
 Allele C | 1172 (0.73) | 626 (0.71) | - | 1.0 (ref) | 386 (0.72) | - | 1.0 (ref) | 240 (0.70) | - | 1.0 (ref) |
 Allele G | 442 (0.27) | 254 (0.29) | 0.4 | 1.0 [0.9–1.3] | 152 (0.28) | 0.7 | 1.0 [0.8–1.3] | 102 (0.30) | 0.3 | 1.1 [0.8–1.4] |
rs2682818 (Pre-miR 618) | ||||||||||
 C/C | 699 (86.6 %) | 359 (81.6 %) | - | 1.0 (ref) | 221 (82 %) | - | 1.0 (ref) | 139 (81 %) | - | 1.0 (ref) |
 C/A | 102 (12.6 %) | 78 (17.7 %) | 0.01 | 1.4 [1.0–2.0] | 45 (17 %) | 0.1 | 1.4 [0.9–2.1] | 32 (19 %) | 0.04 | 1.6 [1.0–2.4] |
 A/A | 6 (0.7 %) | 3 (0.7 %) | 1.0 | 0.9 [0.2–3.9] | 3 (1 %) | 0.4 | 1.5 [0.3–6.3] | 0 (0 %) | 0.5 | 0.3 [0.02–6.8] |
 C/A + A/A | 108 (13.3 %) | 81 (18.4 %) | 0.02 | 1.4 [1.0–2.0] | 48 (18 %) | 0.08 | 1.4 [0.8–2.0] | 32 (19 %) | 0.07 | 1.4 [0.9–2.3] |
 Allele C | 1500 (0.93) | 796 (0.90) | - | 1.0 (ref) | 487 (0.91) | - | 1.0 (ref) | 310 (0.91) | - | 1.0 (ref) |
 Allele A | 114 (0.07) | 84 (0.10) | 0.03 | 1.3 [1.0–1.8] | 51 (0.09) | 0.08 | 1.3 [0.9–1.9] | 32 (0.09) | 0.1 | 1.3 [0.9–2.0] |