Table 2.
Breast Cancer Risk in Europeans by Haplotypes of Five iCHAV Representative SNPs
Haplotypea |
|||||||
---|---|---|---|---|---|---|---|
h0 | h1 | h2 | h3 | h4 | h5 | h6 | |
iCHAV1b | 1 | 1 | 1 | 1 | 1 | 2 | 2 |
iCHAV2ac | 1 | 1 | 1 | 2 | 2 | 1 | 2 |
iCHAV2bd | 1 | 1 | 1 | 1 | 1 | 2 | 1 |
iCHAV2ce | 1 | 2 | 1 | 1 | 2 | 1 | 2 |
iCHAV3f | 1 | 1 | 2 | 1 | 1 | 1 | 1 |
Frequency | 0.52 | 0.12 | 0.15 | 0.02 | 0.01 | 0.11 | 0.05 |
Overall Breast Cancer Risk | |||||||
OR | – | 1.01 | 0.95 | 1.08 | 1.05 | 1.16 | 1.31 |
95% CI | – | 0.99–1.05 | 0.92–0.97 | 0.99–1.17 | 0.99–1.17 | 1.12–1.20 | 1.25–1.37 |
p value | – | 4.50 × 10−1 | 2.08 × 10−4 | 7.57 × 10−2 | 3.81 × 10−1 | 2.00 × 10−20 | 1.66 × 10−29 |
ER+Breast Cancer Risk | |||||||
OR | – | 1.03 | 0.95 | 1.13 | 0.99 | 1.19 | 1.34 |
95% CI | – | 0.99–1.07 | 0.92–0.99 | 1.02–1.24 | 0.87–1.13 | 1.14–1.23 | 1.27–1.42 |
p value | – | 1.12 × 10−1 | 5.23 × 10−3 | 1.68 × 10−2 | 8.75 × 10−1 | 9.37 × 10−20 | 3.74 × 10−27 |
ER−Breast Cancer Risk | |||||||
OR | – | 1.04 | 1.04 | 1.08 | 1.17 | 1.1 | 1.15 |
95% CI | – | 0.98–1.11 | 0.98–1.10 | 0.92–1.27 | 0.96–1.42 | 1.04–1.18 | 1.05–1.25 |
p value | – | 2.08 × 10−1 | 1.67 × 10−1 | 3.45 × 10−1 | 1.12 × 10−1 | 1.82 × 10−3 | 3.64 × 10−3 |
1 represents major alleles, and 2 represents minor alleles in each SNP.
h1–h6 are compared to h0 (the reference haplotype carrying the major alleles of all five SNPs).
iCHAV1 represents 15 SNPs, of which rs62355902 is the best candidate.
iCHAV2a represents 90 SNPs that have r2 ≥ 0.53 with rs113317823 and r2 = 0.19–0.29 with rs62355902. rs113317823 is the best candidate.
iCHAV2b represents 66 SNPs that have r2 ≤ 0.01 with rs113317823 and r2 = 0.59–0.62 with rs62355902; rs62355899 is the best candidate.
iCHAV2c represents 17 SNPs that have r2 = 0.14–0.16 with rs113317823 and r2 ≤ 0.01 with rs6235590; rs7721581 is the best candidate.
iCHAV3 represents five SNPs, of which rs11949391 is the best candidate.