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Table 2 Results of four single-nucleotide polymorphisms and breast cancer risk identified in genome-wide association studies (stage I) and replication stages (stages II and III)

From: A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study

SNPa Genomic locationb Stage Number of cases Number of controls MAF in cases MAF in controls HWE P Heterozygote OR (95% CI)a Homozygote OR (95% CI)a Per-allele OR
(95% CI)c
P trend d
rs13393577 213,005,108 I 2,269 1,992 0.066 0.039 0.25 1.72 (1.38-2.13) 2.25 (0.79-6.42) 1.68 (1.38-2.06) 4.8 × 10-7
(C/T) (2q34) II 2,037 2,166 0.096 0.066 0.22 1.39 (1.16-1.67) 5.57 (2.26-13.7) 1.51 (1.29-1.78) 1.1 × 10-5
   III 1,952 1,644 0.061 0.047 0.83 1.35 (1.07-1.70) 2.70 (0.81-9.03) 1.38 (1.11-1.71) 1.3 × 10-2
   Combined 6,258 5,802 0.074 0.051   1.47 (1.28-1.70) 3.49 (1.93-6.33) 1.53 (1.37-1.70) 8.8 × 10-14
rs9498283 149,646,875 I 2,266 2,051 0.451 0.500 0.08 0.79 (0.68-0.91) 0.67 (0.56-0.79) 0.81 (0.75-0.89) 5.3 × 10-6
(A/G) (6q25.1) II 2,049 2,145 0.449 0.470 0.05 0.97 (0.84-1.12) 0.85 (0.71-1.01) 0.92 (0.85-1.01) 6.8 × 10-1
   III 1,988 1,657 0.453 0.478 0.28 1.02 (0.87-1.19) 0.85 (0.70-1.03) 0.93 (0.84-1.02) 1.6 × 10-1
   Combined 6,303 5,853 0.451 0.451   0.92 (0.79-1.07) 0.78 (0.66-0.92) 0.89 (0.82-0.96) 9.6 × 10-3
rs11077488 65,801,677 I 2,273 2,052 0.150 0.185 0.58 0.77 (0.67-0.89) 0.60 (0.41-0.86) 0.77 (0.69-0.87) 1.2 × 10-5
(C/T) (17q24.3) II 2,046 2,141 0.155 0.171 0.93 0.88 (0.76-1.01) 0.87 (0.60-1.27) 0.90 (0.80-1.01) 9.7 × 10-1
   III 1,984 1,669 0.164 0.163 0.90 1.02 (0.87-1.18) 0.98 (0.65-1.49) 1.01 (0.89-1.15) 1.1 × 10-1
   Combined 6,303 5,862 0.156 0.174   0.88 (0.76-1.02) 0.79 (0.59-1.07) 0.89 (0.76-1.03) 1.6 × 10-1
rs3806685 180,522,445 I 2,262 2,051 0.156 0.189 0.95 0.90 (0.79-1.03) 0.25 (0.15-0.41) 0.78 (0.69-0.88) 3.4 × 10-5
(A/G) (3q26.32) II 2,040 2,163 0.169 0.177 0.11 0.84 (0.73-0.97) 1.04 (0.72-1.52) 0.90 (0.80-1.01) 9.7 × 10-1
   III 1,971 1,657 0.189 0.162 0.93 1.22 (1.05-1.42) 1.24 (0.83-1.83) 1.18 (1.04-1.34) 1.8 × 10-2
   Combined 6,273 5,871 0.171 0.177   0.97 (0.78-1.21) 0.69 (0.28-1.70) 0.94 (0.74-1.18) 5.9 × 10-1
  1. aMajor/Minor allele; blocation is based on NCBI Build 36; codds ratio (OR) adjusted for age; dPtrend values of stage II, stage III, and combined analysis were adjusted for the multiple comparisons by using false discovery rate. CI, confidence interval; GWAS, genome-wide association study; HWE, Hardy-Weinberg equilibrium; MAF, minor allele frequency; SNP, single-nucleotide polymorphism.