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. Author manuscript; available in PMC: 2015 Dec 1.
Published in final edited form as: Endocr Relat Cancer. 2014 Sep 16;21(6):853–864. doi: 10.1530/ERC-14-0250

Table 3.

Associations between SNPs and risk of breast cancer by ER status among European American or African American women.

Gene SNP Coded/
reference
allele
Race Estrogen
receptor
status
Allele
frequency
in cases
Allele
frequency in
controls
Heterozygotes
OR(95%CI)a
Homozygotes
OR(95%CI)a
Per allele
OR(95%CI)a
P for
trend
Pcc
CYP17A1 rs12413409 A/G EA + 0.10 0.10 0.95 (0.66–1.36) 1.89 (0.54–6.61) 1.04 (0.75–1.43) 0.83 1.00
0.15 0.10 2.01 (1.15–3.54) 2.55 (0.28–23.31) 1.92 (1.15–3.21) 0.01 0.05
AA + 0.05 0.05 1.01 (0.64–1.60) N/Ab 0.99 (0.63–1.55) N/Ab N/Ab
0.05 0.05 0.90 (0.48–1.71) N/Ab 0.89 (0.47–1.67) N/Ab N/Ab
CYP1A2 rs2470893 A/G EA + 0.25 0.26 1.03 (0.78–1.37) 0.61 (0.33–1.13) 0.91 (0.73–1.14) 0.40 1.00
0.21 0.26 0.89 (0.53–1.50) 0.33 (0.07–1.45) 0.76 (0.49–1.16) 0.20 0.90
AA + 0.08 0.05 1.78 (1.14–2.79) 2.80 (0.52–14.99) 1.76 (1.17–2.64) 0.006 0.03
0.05 0.05 0.72 (0.33–1.59) N/Ab 0.67 (0.31–1.45) N/Ab N/Ab
ESR1 rs1801132 C/G EA + 0.24 0.17 1.34 (1.00–1.80) 2.69 (1.38–5.23) 1.46 (1.16–1.85) 0.002 0.01
0.23 0.17 1.25 (0.73–2.14) 2.69 (0.92–7.89) 1.42 (0.84–2.16) 0.10 0.45
AA + 0.11 0.11 0.96 (0.68–1.35) 0.85 (0.20–3.68) 0.95 (0.69–1.31) 0.76 1.00
0.12 0.11 0.99 (0.61–1.58) 2.62 (0.61–11.29) 1.11 (0.73–1.69) 0.61 1.00
ESR1 rs2046210 A/G EA + 0.41 0.35 1.11 (0.82–1.49) 1.74 (1.14–2.67) 1.26 (1.03–1.55) 0.02 0.09
0.40 0.35 0.82 (0.48–1.42) 1.62 (0.79–3.32) 1.16 (0.80–1.67) 0.44 1.00
AA + 0.63 0.64 1.49 (0.96–2.30) 1.08 (0.69–1.70) 0.95 (0.77–1.16) 0.59 1.00
0.64 0.64 0.75 (0.44–1.30) 0.84 (0.49–1.45) 0.96 (0.74–1.25) 0.75 1.00
ESR1 rs3020314 G/A EA + 0.36 0.28 1.46 (1.10–1.95) 1.88 (1.18–3.00) 1.40 (1.14–1.72) 0.001 0.005
0.36 0.28 2.01 (1.19–3.39) 1.78 (0.71–4.48) 1.55 (1.07–2.25) 0.02 0.09
AA + 0.72 0.72 0.98 (0.57–1.69) 1.02 (0.59–1.74) 1.02 (0.82–1.28) 0.84 1.00
0.71 0.72 0.76 (0.38–1.52) 0.77 (0.39–1.52) 0.93 (0.70–1.25) 0.63 1.00
HSD17B2 rs4445895 A/G EA + 0.41 0.41 1.03 (0.76–1.39) 1.00 (0.67–1.50) 1.01 (0.83–1.22) 0.96 1.00
0.29 0.41 0.41 (0.24–0.71) 0.54 (0.26–1.12) 0.62 (0.43–0.90) 0.01 0.05
AA + 0.36 0.31 1.23 (0.92–1.66) 1.54 (0.99–2.40) 1.24 (1.01–1.52) 0.04 0.18
0.29 0.31 1.08 (0.74–1.59) 0.71 (0.35–1.47) 0.94 (0.71–1.25) 0.67 1.00
UGT1A9 rs6714486 A/T EA + 0.06 0.05 1.35 (0.87–2.1) N/Ab 1.24 (0.81–1.89) N/Ab N/Ab
0.03 0.05 0.47 (0.16–1.41) N/Ab 0.45 (0.16–1.33) N/Ab N/Ab
AA + 0.13 0.17 0.70 (0.50–0.98) 0.70 (0.31–1.56) 0.75 (0.57–0.98) 0.04 0.18
0.16 0.17 1.08 (0.71–1.63) 0.14 (0.02–1.14) 0.85 (0.60–1.22) 0.39 1.00

Abbreviations: OR, odds ratio; 95%CI, 95% confidence interval; EA, European American; AA, African American; Code allele/reference allele, the minor allele of each SNP in EA controls is defined as coded allele, whereas the other allele is defined as reference allele; Allele frequency, allele frequencies of the coded alleles; P for trend, p value for linear trend. Detailed information on number of subjects, ORs and 95% CIs for all 49 SNPs analyzed are shown in Supplementary Table 3.

a

Adjusted for age at diagnosis (continuous), education (less than high school, high school, college and graduate school), family history of breast cancer (yes, no), history of benign breast disease (yes, no), menopausal status (premenopausal, postmenopausal), number of full pregnancies (continuous), breast feeding (yes, no, nulliparous), Hormone Replacement Therapy (HRT, yes, no), body mass index (continuous), proportion of European ancestry (continuous) and “estrogen months” (continuous). P values corrected for multiple comparisons using a modified FDR method.

b

OR, 95% CI and corresponding P for trend were not calculated due to the small number of breast cancer cases in the category.

c

P values corrected for multiple testing using a modified FDR method.