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. 2015 Jan 8;96(1):5–20. doi: 10.1016/j.ajhg.2014.11.009

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

ERBreast 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.

a

h1–h6 are compared to h0 (the reference haplotype carrying the major alleles of all five SNPs).

b

iCHAV1 represents 15 SNPs, of which rs62355902 is the best candidate.

c

iCHAV2a represents 90 SNPs that have r2 ≥ 0.53 with rs113317823 and r2 = 0.19–0.29 with rs62355902. rs113317823 is the best candidate.

d

iCHAV2b represents 66 SNPs that have r2 ≤ 0.01 with rs113317823 and r2 = 0.59–0.62 with rs62355902; rs62355899 is the best candidate.

e

iCHAV2c represents 17 SNPs that have r2 = 0.14–0.16 with rs113317823 and r2 ≤ 0.01 with rs6235590; rs7721581 is the best candidate.

f

iCHAV3 represents five SNPs, of which rs11949391 is the best candidate.