From: Polymorphisms in genes involved in the estrogen pathway and mammographic density
SNP reference | Â | Â | Adjusted mean mammographic density (95% CI) a | |||||
---|---|---|---|---|---|---|---|---|
Gene name | ID b | Genotype | N (%) | Percent density (%) | Absolute density (cm2) c | |||
Parity: | Â | Â | No | Yes | No | Yes | No | Yes |
COMT | rs4680 | GG | 44 (6.1) | 143 (19.7) | 43.1 (37.1-49.1) | 42.0 (38.7-45.3) | 43.3 (35.7-51.7) | 48.8 (44.3-53.6) |
 |  | GA | 96 (13.2) | 275 (38.0) | 45.3 (41.3-49.3) | 43.3 (41.0-45.7) | 46.4 (41.1-52.1) | 46.7 (43.5-50.1) |
 |  | AA | 34 (4.7) | 133 (18.3) | 43.4 (36.7-50.0) | 38.6 (35.2-42.0) | 52.6 (43.3-62.9) | 43.6 (39.3-48.2) |
 |  | P trend d |  |  | 0.93 | 0.17 | 0.15 | 0.12 |
 |  | P i e |  |  | 0.47 | 0.05 | ||
CYP1B1 | rs1056836 | CC | 53 (7.3) | 163 (22.4) | 46.6 (41.1-52.1) | 42.8 (39.7-45.8) | 54.2 (46.4-62.7) | 47.2 (43.1-51.5) |
 |  | GC | 86 (11.8) | 282 (38.8) | 46.3 (42.0-50.5) | 41.8 (39.5-44.1) | 47.0 (41.3-53.0) | 46.4 (43.3-49.6) |
 |  | GG | 35 (4.8) | 108 (14.8) | 36.9 (30.3-43.5) | 40.6 (36.8-44.3) | 37.0 (29.5-45.4) | 45.5 (40.6-50.7) |
 |  | P trend |  |  | 0.04 | 0.38 | 0.004 | 0.62 |
 |  | P i |  |  | 0.19 | 0.02 | ||
Hormonal derivatives used: | No | Yes | No | Yes | No | Yes | ||
HSD17B1 | rs598126 | CC | 14 (1.9) | 177 (24.5) | 38.3 (27.7-49.0) | 43.0 (40.1-45.9) | 38.1 (26.3-52.4) | 49.3 (45.2-53.5) |
 |  | CT | 24 (3.3) | 326 (45.2) | 44.2 (36.2-52.2) | 43.0 (40.9-45.2) | 45.4 (35.2-56.9) | 46.6 (43.7-49.7) |
 |  | TT | 16 (2.2) | 165 (22.9) | 52.0 (42.1-61.8) | 39.9 (36.9-42.9) | 56.6 (42.6-72.7) | 43.1 (39.2-47.2) |
 |  | P trend |  |  | 0.06 | 0.16 | 0.06 | 0.04 |
 |  | P i |  |  | 0.03 | 0.02 | ||
HSD17B1 | rs2010750 | GG | 15 (2.1) | 218 (30.1) | 38.2 (27.9-48.5) | 43.1 (40.5-45.8) | 37.9 (26.5-51.7) | 48.2 (44.6-52.0) |
 |  | AG | 25 (3.5) | 322 (44.5) | 44.7 (36.8-52.5) | 42.9 (40.8-45.1) | 45.8 (35.8-57.2) | 47.4 (44.4-50.4) |
 |  | AA | 15 (2.1) | 129 (17.8) | 52.9 (42.8-63.0) | 39.6 (36.2-43.0) | 58.7 (44.1-75.7) | 42.4 (38.0-47.0) |
 |  | P trend |  |  | 0.04 | 0.16 | 0.04 | 0.08 |
 |  | P i |  |  | 0.02 | 0.01 | ||
COMT | rs4680 | GG | 15 (2.1) | 172 (23.7) | 47.5 (37.3-57.6) | 41.8 (38.9-44.8) | 55.0 (40.9-71.4) | 47.0 (43.0-51.2) |
 |  | GA | 29 (4.0) | 342 (47.1) | 49.1 (41.7-56.6) | 43.3 (41.2-45.4) | 50.2 (40.2-61.5) | 46.1 (43.3-49.0) |
 |  | AA | 11 (1.5) | 156 (21.5) | 31.8 (20.1-43.6) | 40.2 (37.1-43.3) | 30.6 (19.4-44.9) | 46.6 (42.5-51.0) |
 |  | P trend |  |  | 0.07 | 0.50 | 0.02 | 0.93 |
 |  | P i |  |  | 0.12 | 0.03 | ||
Age at menarche (median) (years): | ≤12 | > 12 | ≤12 | > 12 | ≤12 | > 12 | ||
COMT | rs4680 | GG | 76 (10.8) | 108 (15.3) | 41.2 (36.7-45.6) | 43.7 (39.9-47.5) | 42.7 (37.0-48.8) | 51.6 (46.2-57.2) |
 |  | GA | 165 (23.3) | 196 (27.7) | 43.0 (40.0-46.1) | 43.9 (41.1-46.7) | 48.7 (44.5-53.1) | 43.7 (40.1-47.5) |
 |  | AA | 73 (10.3) | 89 (12.6) | 40.8 (36.2-45.4) | 38.2 (34.1-42.4) | 47.9 (41.7-54.6) | 43.4 (38.1-49.0) |
 |  | P trend |  |  | 0.93 | 0.06 | 0.22 | 0.03 |
 |  | P i |  |  | 0.25 | 0.02 | ||
Body mass index (median) (kg/m 2 ): | ≤24.4 | > 24.4 | ≤24.4 | > 24.4 | ≤24.4 | > 24.4 | ||
HSD17B1 | rs598126 | CC | 91 (12.6) | 100 (13.9) | 49.8 (45.5-54.1) | 34.5 (30.4-38.6) | 49.1 (43.3-55.2) | 47.1 (41.7-52.9) |
 |  | CT | 188 (26.0) | 162 (22.4) | 51.3 (48.3-54.3) | 34.7 (31.5-38.0) | 50.0 (45.8-54.3) | 43.7 (39.5-48.0) |
 |  | TT | 92 (12.7) | 89 (12.3) | 52.3 (48.0-56.6) | 29.1 (24.7-33.4) | 51.9 (45.9-58.2) | 37.2 (32.2-42.6) |
 |  | P trend |  |  | 0.42 | 0.08 | 0.53 | 0.01 |
 |  | P i |  |  | 0.07 | 0.02 |