Associations between TOX3 rs3803662 polymorphisms and immunological markers of breast cancer

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TOX3 gene was considered to be breast cancer susceptibility gene in the European population and East Asian populations. This study was aimed to investigate the relevance of TOX3 gene rs3803662 single nucleotide polymorphisms and sporadic breast cancer susceptibility among the Han Nationality in Henan Province. A case-control study was performed among 253 patients with sporadic breast cancer and 343 control subjects in Henan Province. The SNP rs3803662 in TOX3 was genotyped by imLDR technique. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for the SNP between different alleles and breast cancer. There was no statistically significant difference in the distribution of TOX3 rs3803662 allele in different Ki-67 value and HER2 gene status in the case group. The distribution of TOX3 rs3803662 allele between breast cancer and the control group were different. Compared with allele AA and GA, allele GG increased the risk of breast cancer in codominant inheritance (OR=2.19, 95% CI:1.19-4.02) and recessive genetic models (OR=2.06, 95% CI: 1.15-3.70). Further stratifying analysis was conducted based on estrogen receptor status. The SNP rs3803662 showed significant associations with ER status, and was associated with positive ER status in the recessive (OR=1.92; 95% CI:1.00-3.67; P=0.05) and codominant models (OR=2.07; 95% CI:1.05--.08; P=0.036). And this SNP was associated with negative ER status breast cancers in both recessive (OR=2.38; 95% CI:1.10-5.15; P=0.028) and codominant models (OR=2.43; 95% CI:1.08-5.48; P=0.032). But there was no statistically significant difference in each subgroup stratified by ER status. This was a verification study in a Han population. In codominant and recessive genetic models, allele GG increased breast cancer risk and was associated with the pathogenesis of different ER status breast cancer. But there was no obvious correlation between this SNP and Ki-67 or HER2 gene. This is the first breast cancer susceptibility loci that is confirmed in Henan population. Our study only analyzes the correlation between the SNP and ER status in breast cancer. More studies and analyses about the association between SNPs and different characteristic of breast cancer should be performed.