Skip to main content

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.