Table 3.
Frequencies of haplotypes (>1%) containing SNPs in ESR1 and ESR2 and association between cases and controls.
| Gene | Haplotypea | Case (freq.) | Control (freq.) | P b | P value (corrected)c | OR [95% CI] |
| ESR1 | ACA | 0.100 | 0.243 | .0005 | .003 | 0.35[0.19–0.65] |
| GCA | 0.214 | 0.085 | .0005 | .003 | 2.99[1.57–5.70] | |
| GCC | 0.041 | 0.054 | .59 | – | 0.76[0.28–2.07] | |
| GTA | 0.385 | 0.334 | .26 | – | 1.28[0.83–2.00] | |
| ESR2 | TTC | 0.064 | 0.060 | .88 | – | 1.07[0.45–2.56] |
| TCC | 0.352 | 0.252 | .04 | .24 | 1.63[1.02–2.59] | |
| TCT | 0.199 | 0.288 | .05 | – | 0.61[0.37–1.01] | |
| GTC | 0.020 | 0.033 | .43 | – | 0.58[0.15–2.56] | |
| GCC | 0.174 | 0.217 | .31 | – | 0.76[0.45–1.29] | |
| GCT | 0.170 | 0.130 | .29 | – | 1.37[0.76–2.49] |
– = not significant, 95% CI = 95% confidence intervals, OR = odds ratio, SNP = single-nucleotide polymorphism.
The program, Plink, was used to estimate common (frequency > 0.01) haplotypes constructed by three SNPs of ESR1 (rs9340799, rs2234693, rs3798759) and ESR2 (rs2077647, rs4986938, rs1256049).
Each haplotype was compared with the other haplotypes combined.
The Bonfferoni correction was applied to correct the P value.