Chen Qi, He Yaning, Liu Chaojun, Liu Hui, Sun Xianfu, Shao Yingbo, Huang Tao, Xu Bin
The Affiliated Tumor Hospital of Zhengzhou University (Henan Province Tumor Hospital), Zhengzhou 450000, China.
The Affiliated Tumor Hospital of Zhengzhou University (Henan Province Tumor Hospital), Zhengzhou 450000, China; Email:
Zhonghua Yi Xue Za Zhi. 2015 Sep 8;95(34):2783-6.
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.
在欧洲人群和东亚人群中,TOX3基因被认为是乳腺癌易感基因。本研究旨在探讨TOX3基因rs3803662单核苷酸多态性与河南省汉族人群散发性乳腺癌易感性的相关性。
对河南省253例散发性乳腺癌患者和343例对照者进行病例对照研究。采用imLDR技术对TOX3基因中的SNP rs3803662进行基因分型。基于非条件逻辑回归进行关联分析,以确定不同等位基因与乳腺癌之间SNP的比值比(OR)和95%置信区间(95%CI)。
病例组中,不同Ki-67值和HER2基因状态下,TOX3 rs3803662等位基因的分布无统计学显著差异。乳腺癌组与对照组之间TOX3 rs3803662等位基因的分布不同。与AA和GA等位基因相比,GG等位基因在共显性遗传模型(OR=2.19,95%CI:1.19-4.02)和隐性遗传模型(OR=2.06,95%CI:1.15-3.70)中增加了乳腺癌风险。基于雌激素受体状态进行进一步分层分析。SNP rs3803662与雌激素受体状态显著相关,在隐性模型(OR=1.92;95%CI:1.00-3.67;P=0.05)和共显性模型(OR=2.07;95%CI:1.05-4.08;P=0.036)中与雌激素受体阳性状态相关。并且该SNP在隐性模型(OR=2.38;95%CI:1.10-5.15;P=0.028)和共显性模型(OR=2.43;95%CI:1.08-5.48;P=0.032)中均与雌激素受体阴性状态的乳腺癌相关。但按雌激素受体状态分层的各亚组之间无统计学显著差异。
这是一项在汉族人群中的验证研究。在共显性和隐性遗传模型中,GG等位基因增加了乳腺癌风险,并与不同雌激素受体状态乳腺癌的发病机制相关。但该SNP与Ki-67或HER2基因之间无明显相关性。这是在河南人群中首次证实的乳腺癌易感位点。我们的研究仅分析了该SNP与乳腺癌中雌激素受体状态的相关性。应开展更多关于SNP与乳腺癌不同特征之间关联的研究和分析。