Table 3.
Minor allele frequencies, odds ratios (ORs) and 95% confidence intervals (CIs) for HFE SNPs and breast cancer incidence and associations with plasma ferritin levels in the NHSII among women of European ancestry
| rs Number | Location | Genotype | Frequency in Cases | Frequency in Controls | Per-Allele OR (95% CI)a | P-valueb | Ferritin Level, ng/mLc | P-valued |
|---|---|---|---|---|---|---|---|---|
| rs2794719 | Intronic | TT | 35.1% | 35.5% | 1.02 (0.89, 1.15) | 0.81 | 41.73 | 0.66 |
| GT | 47.5% | 47.4% | 40.00 | |||||
| GG | 17.4% | 17.0% | 44.89 | |||||
|
| ||||||||
| rs9366637 | Intronic | CC | 86.7% | 88.7% | 1.15 (0.90, 1.48) | 0.28 | 40.09 | 0.04 |
| CT | 12.9% | 10.6% | 50.16 | |||||
| TT | 0.4% | 0.7% | 39.50 | |||||
|
| ||||||||
| rs1799945 (H63D) | Non-Synonymous Coding | CC | 72.3% | 73.7% | 1.04 (0.87, 1.23) | 0.70 | 40.52 | 0.42 |
| CG | 25.6% | 23.6% | 43.67 | |||||
| GG | 2.1% | 2.6% | 39.05 | |||||
|
| ||||||||
| rs2071303 | Splice Site, Intronic | TT | 43.9% | 44.9% | 1.05 (0.92, 1.20) | 0.50 | 40.43 | 0.24 |
| CT | 44.1% | 44.1% | 40.90 | |||||
| CC | 12.0% | 11.0% | 47.37 | |||||
|
| ||||||||
| rs1800562 (C282Y) | Non-Synonymous Coding | GG | 89.1% | 87.1% | 0.85 (0.66, 1.11) | 0.23 | 41.38 | 0.53 |
| GA | 10.2% | 12.3% | 38.76 | |||||
| AA | 0.7% | 0.6% | 108.71 | |||||
|
| ||||||||
| rs707889 | Intronic | GG | 59.6% | 58.6% | 0.94 (0.81, 1.10) | 0.46 | 42.51 | 0.17 |
| AG | 36.8% | 36.7% | 39.44 | |||||
| AA | 3.7% | 4.7% | 37.06 | |||||
|
| ||||||||
| rs1045537 | Non-Synonymous Coding | GG | 80.2% | 79.6% | 0.95 (0.77, 1.18) | 0.66 | 41.43 | 0.87 |
| CG | 19.1% | 19.5% | 39.34 | |||||
| CC | 0.7% | 0.9% | 84.63 | |||||
|
| ||||||||
| rs17596719 | Downstream | GG | 78.9% | 78.3% | 0.96 (0.79, 1.18) | 0.71 | 40.78 | 0.27 |
| AG | 20.1% | 20.6% | 42.42 | |||||
| AA | 0.9% | 1.0% | 67.78 | |||||
|
| ||||||||
| rs6918586 | Downstream | TT | 34.6% | 35.4% | 1.02 (0.89, 1.16) | 0.83 | 39.05 | 0.06 |
| CT | 50.5% | 49.7% | 40.90 | |||||
| CC | 14.8% | 14.9% | 48.00 | |||||
|
| ||||||||
| rs198852 | Synonymous | AA | 39.1% | 38.0% | 1.01 (0.88, 1.15) | 0.93 | 43.34 | 0.36 |
| AG | 46.1% | 48.5% | 39.93 | |||||
| GG | 14.9% | 13.5% | 41.01 | |||||
|
| ||||||||
| rs2051542 | Non-Synonymous Coding | GG | 87.8% | 88.5% | 1.05 (0.81, 1.35) | 0.73 | 40.82 | 0.35 |
| AG | 11.8% | 10.9% | 45.29 | |||||
| AA | 0.4% | 0.6% | 39.40 | |||||
|
| ||||||||
| rs198839 | Upstream | GG | 52.1% | 53.5% | 1.02 (0.88, 1.17) | 0.81 | 39.99 | 0.16 |
| GT | 41.4% | 39.2% | 42.52 | |||||
| TT | 6.5% | 7.2% | 47.04 | |||||
|
| ||||||||
| rs198833 | Downstream | AA | 70.9% | 72.5% | 1.04 (0.88, 1.23) | 0.66 | 40.80 | 0.44 |
| AG | 26.6% | 24.5% | 42.19 | |||||
| GG | 2.5% | 3.0% | 48.05 | |||||
|
| ||||||||
| rs13161 | 3′ Untranslated | TT | 27.5% | 28.8% | 1.02 (0.90, 1.16) | 0.72 | 38.19 | 0.07 |
| CT | 52.8% | 51.3% | 41.77 | |||||
| CC | 19.7% | 19.9% | 44.90 | |||||
|
| ||||||||
| rs707896 | Intronic | GG | 68.6% | 68.7% | 0.99 (0.83, 1.17) | 0.86 | 42.86 | 0.10 |
| AG | 29.6% | 28.8% | 37.48 | |||||
| AA | 1.8% | 2.4% | 42.37 | |||||
Note: Numbers may not add up as expected due to rounding
Note: The number of cases/controls for analyses of SNPs and breast cancer incidence varies across SNPs from 748–761/1,334–1,359
Note: The number of controls for analyses of SNPs and plasma ferritin levels varies across SNPs from 720–733
Note: A P-value significance threshold of 0.004 controls the experiment-wide type I error rate at the 0.05 level
Obtained from unconditional logistic regression models adjusted for age at blood draw
P-values determined by likelihood ratio tests with 1 degree of freedom
Obtained from generalized linear models among controls adjusted for age at blood draw
Type III Wald P-values generated from modeling the number of minor alleles as continuous variables