Table 1.
Signal | Representative SNP | Position | Alleles | Freq. | BCAC |
CIMBA |
BCAC ER−
|
MODE |
|
---|---|---|---|---|---|---|---|---|---|
ER−
|
ER+
|
BRCA1 mutations |
CIMBA BRCA1
|
Mammographic dense areaa
|
|||||
OR (95% CI)
Ptrend cOR (95% CI) Pcond |
OR (95% CI)
Ptrend cOR (95% CI) Pcond |
HR (95% CI) P
value cHR (95% CI) Pcond |
Meta-analysis P value Pcond |
β (95%
CI)
Ptrend cβ (95% CI) Pcond |
|||||
1 | rs3757322 | 151,942,194 | GT | 0.33 | 1.17 (1.12–1.21) 1.00 × 10−14 | 1.07 (1.04–1.09) 1.10 × 10−7 | 1.15 (1.10–1.20) 3.78 × 10−10 | 2.50 × 10−23 | 0.12 (0.07, 0.17) 1.82 × 10−6 |
1.14 (1.10–1.19) 1.51 × 10−9 | 1.06 (1.04–1.09) 1.02 × 10−5 | 1.10 (1.06–1.14) 3.79 × 10−7 | 7.59 × 10−15 | 0.07 (0.01, 0.12) 0.017 | |||||
2 | rs9397437 | 151,952,332 | AG | 0.07 | 1.28 (1.19–1.37) 5.29 × 10−12 | 1.15 (1.10–1.20) 1.26 × 10−9 | 1.24 (1.15–1.33) 3.98 × 10−8 | 6.79 × 10−19 | 0.27 (0.18, 0.36) 2.36 × 10−9 |
1.18 (1.11–1.26) 1.20 × 10−5 | 1.12 (1.07–1.17) 3.56 × 10−6 | 1.12 (1.05–1.19) 3.60 × 10−4 | 3.29 × 10−8 | 0.22 (0.12, 0.32) 1.66 × 10−5 | |||||
3 | rs851984 | 152,023,191 | AG | 0.41 | 1.04 (1.01–1.08) 0.024 | 1.06 (1.03–1.08) 1.97 × 10−6 | 1.05 (1.01–1.10) 0.015 | 9.14 × 10−4 | −0.03 (−0.07, 0.02) 0.29 |
NA | 1.07 (1.05–1.10) 1.09 × 10−8 | 1.07 (1.03–1.10) 3.60 × 10−4 | 3.12 × 10−5 | 0.01 (−0.04, 0.06) 0.83 | |||||
4 | rs9918437 | 152,072,718 | TG | 0.07 | 1.18 (1.11–1.27) 6.20 × 10−7 | 1.08 (1.04–1.13) 1.04 × 10−4 | 1.17 (1.08–1.26) 1.30 × 10−4 | 1.48 × 10−10 | 0.03 (−0.05, 0.12) 0.45 |
1.13 (1.06–1.20) 4.46 × 10−4 | NA | 1.10 (1.04–1.17) 0.0015 | 2.61 × 10−6 | 0.03 (−0.06, 0.12) 0.46 | |||||
5 | rs2747652 | 152,437,016 | CT | 0.54 | 1.12 (1.08–1.16) 1.83 × 10−9 | 1.05 (1.03–1.08) 9.49 × 10−6 | 1.00 (0.96–1.04) 0.95 | 1.44 × 10−5 | −0.02 (−0.07, 0.03) 0.39 |
1.12 (1.08–1.16) 2.32 × 10−9 | 1.05 (1.03–1.08) 6.60 × 10−6 | 1.00 (0.97–1.04) 0.86 | 5.97 × 10−5 | −0.02 (−0.07, 0.03) 0.45 |
For each signal-representative SNP (the best associated genotyped SNP), odds ratios for the minor/major allele and conditional odds ratios (OR and cOR) together with 95% confidence intervals (CIs), hazard ratios (HR and cHR), β coefficients (β and cβ) and P values (Pcond) are from models including the other four signal-representative SNPs. Representative conditional odds ratios and confidence intervals could not be generated from the meta-analysis. NA indicates that the SNP was not included in conditional analysis because its individual effect was not significant at P > 1 × 10−4. Freq., frequency.
Mammographic dense area was square-root transformed and adjusted for age, BMI, menopausal status, study and relevant principal components.