Table 2.
Genotype and allelic frequencies of rs3746444, rs2910164, rs12975333, rs2043556, and rs4541843 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, Diagnosis at ≤50 Years of Age (n = 171) | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Genotype or Allele | Controls (n = 1048) (%) | BC Cases (%) | p-Value a | OR [95% CI] | BC Cases (%) | p-Value a | OR [95% CI] | BC Cases (%) | p-Value a | OR [95% CI] |
| rs3746444 (Pre-miR-499) | ||||||||||
| A/A | 772 (73.7) | 319 (72.5) | - | 1.0 (Ref) | 198 (73.6) | - | 1.0 (Ref) | 121 (70.8) | - | 1.0 (Ref) |
| A/G | 254 (24.2) | 111 (25.2) | 0.6 | 1.0 [0.8–1.3] | 64 (23.8) | 0.9 | 0.9 [0.7–1.3] | 47 (27.5) | 0.3 | 1.1 [0.8–1.7] |
| G/G | 22 (2.1) | 10 (2.3) | 0.8 | 1.1 [0.5–2.3] | 7 (2.6) | 0.6 | 1.2 [0.5–2.9] | 3 (1.7) | 1.0 | 0.8 [0.2–2.9] |
| A/G + G/G | 276 (26.3) | 121 (27.5) | 0.6 | 1.0 [0.8–1.3] | 71 (26.4) | 1.0 | 1.0 [0.7–1.3] | 50 (29.2) | 0.4 | 1.1 [0.8–1.6] |
| Allele A | 1798 (85.8) | 749 (85.1) | - | 1.0 (Ref) | 460 (85.5) | - | 1.0 (Ref) | 289 (84.5) | - | 1.0 (Ref) |
| Allele G | 298 (14.2) | 131 (14.9) | 0.6 | 1.0 [0.8–1.3] | 78 (14.5) | 0.9 | 1.0 [0.7–1.3] | 53 (15.5) | 0.5 | 1.1 [0.8–1.5] |
| rs2910164 (Pre-miR-146a) | ||||||||||
| G/G | 561 (53.5) | 236 (53.6) | - | 1.0 (Ref) | 149 (55.4) | - | 1.0 (Ref) | 87 (50.9) | - | 1.0 (Ref) |
| G/C | 410 (39.1) | 165 (37.5) | 0.7 | 0.9 [0.7–1.1] | 101 (37.5) | 0.6 | 0.9 [0.6–1.2] | 64 (37.4) | 1.0 | 1.0 [0.7–1.4] |
| C/C | 77 (7.4) | 39 (8.9) | 0.3 | 1.2 [0.7–1.8] | 19 (7.1) | 0.8 | 0.9 [0.5–1.5] | 20 (11.7) | 0.06 | 1.6 [0.9–2.8] |
| G/C + C/C | 487 (46.5) | 204 (46.4) | 1.0 | 0.9 [0.7–1.2] | 120 (44.6) | 0.6 | 0.9 [0.7–1.2] | 84 (49.1) | 0.5 | 1.1 [0.8–1.5] |
| Allele G | 1532 (73.1) | 637 (72.4) | - | 1.0 (Ref) | 399 (74.2) | - | 1.0 (Ref) | 238 (69.6) | - | 1.0 (Ref) |
| Allele C | 564 (26.9) | 243 (27.6) | 0.7 | 1.0 [0.8–1.2] | 139 (25.8) | 0.6 | 0.9 [0.7–1.1] | 104 (30.4) | 0.2 | 1.1 [0.9–1.5] |
| rs12975333 (Pre-miR-125a) | ||||||||||
| G/G | 1040 (99.2) | 436 (99.1) | - | 1.0 (ref) | 267 (99.3) | - | 1.0 (ref) | 169 (98.8) | - | 1.0 (ref) |
| G/T | 8 (0.8) | 4 (0.9) | 0.7 | 1.1 [0.3–3.9] | 2 (0.7) | 0.2 | 1.9 [0.5–6.5] | 2 (1.2) | 0.6 | 1.5 [0.3–7.3] |
| T/T | 0 | 0 | - | - | 0 | - | - | 0 | - | - |
| G/T + T/T | 8 (0.8) | 4 (0.9) | 0.7 | 1.1 [0.3–3.9] | 2 (0.7) | 0.2 | 1.9 [0.5–6.5] | 2 (1.2) | 0.6 | 1.5 [0.3–7.3] |
| Allele G | 2088 (99.6) | 876 (99.5) | - | 1.0 (ref) | 536 (99.6) | - | 1.0 (ref) | 340 (99.4) | - | 1.0 (ref) |
| Allele T | 8 (0.4) | 4 (0.5) | 0.7 | 1.1 [0.3–3.9] | 2 (0.4) | 0.2 | 1.9 [0.5–6.5] | 2 (0.6) | 0.6 | 1.5 [0.3–7.3] |
| rs2043556 (miR-605) | ||||||||||
| T/T | 376 (35.9) | 208 (47.3) | - | 1.0 (ref) | 128 (47.6) | - | 1.0 (ref) | 80 (46.8) | - | 1.0 (ref) |
| T/C | 571 (54.5) | 182 (41.3) | <10−4 | 0.5 [0.4–0.7] | 115 (42.7) | 0.0003 | 0.5 [0.4–0.7] | 67 (39.2) | 0.0009 | 0.5 [0.3–0.7] |
| C/C | 101 (9.6) | 50 (11.4) | 0.6 | 0.8 [0.6–1.3] | 26 (9.7) | 0.2 | 0.7 [0.5 –1.2] | 24 (14.0) | 0.6 | 1.1 [0.6–1.8] |
| T/C + C/C | 672 (64.1) | 232 (52.7) | <10−4 | 0.6 [0.4–0.7] | 141 (52.4) | 0.0006 | 0.6 [0.4–0.8] | 91 (53.2) | 0.02 | 0.6 [0.5–0.9] |
| Allele T | 1323 (63.1) | 598 (68.0) | - | 1.0 (ref) | 371 (69.0) | - | 1.0 (ref) | 227 (66.4) | - | 1.0 (ref) |
| Allele C | 773 (36.9) | 282 (32.0) | 0.01 | 0.8 [0.6–0.9] | 167 (31.0) | 0.01 | 0.7 [0.6–0.9] | 115 (33.6) | 0.4 | 0.9 [0.7–1.1] |
| rs4541843 (Pri-miR-182) | ||||||||||
| C/C | 386 (36.8) | 150 (34.1) | - | 1.0 (Ref) | 81 (30.1) | - | 1.0 (ref) | 69 (40.4) | - | 1.0 Ref |
| C/T | 473 (45.1) | 205 (46.6) | 0.4 | 1.1 [0.8–1.4] | 127 (47.2) | 0.1 | 1.2 [0.9–1.7] | 78 (45.6) | 0.6 | 0.9 [0.6–1.3] |
| T/T | 189 (18.1) | 85 (19.3) | 0.4 | 1.5 [0.8–1.5] | 61 (22.7) | 0.03 | 1.5 [1.0–2.2] | 24 (14.0) | 0.1 | 0.7 [0.4–1.1] |
| C/T + T/T | 662 (63.2) | 290 (65.9) | 0.3 | 1.1 [0.8–1.4] | 188 (69.9) | 0.04 | 1.3 [1.0–1.8] | 102 (59.6) | 0.3 | 0.8 [0.6–1.1] |
| Allele C | 1245 (59.4) | 505 (57.4) | - | 1.0 (Ref) | 289 (53.7) | - | 1.0 (ref) | 216 (63.2) | - | 1.0 (Ref) |
| Allele T | 851 (40.6) | 375 (42.6) | 0.3 | 1.0 [0.9–1.2] | 249 (46.3) | 0.01 | 1.2 [1.0–1.5] | 126 (36.8) | 0.2 | 0.8 [0.6–1.0] |
BC—breast cancer; OC—ovarian cancer; OR—odds ratio; CI—confidence interval; Ref—Reference. a Fisher’s exact test. p < 0.05 statistically significant.