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目的:探讨TOX3基因单核苷酸多态与中国北方汉族绝经前妇女乳腺癌风险的关系。方法:采用多重单碱基延伸单核苷酸多态性分型技术(Snapshot)分析方法,检测280例绝经前的乳腺癌患者和287例绝经前的正常对照者TOX3基因rs3803662和rs12443621多态性位点基因型,并比较不同基因型与乳腺癌风险的关系。结果:TOX3基因rs3803662和rs12443621多态性位点基因型频率,在乳腺癌病例组和对照组之间差异无统计学意义,P值分别为0.718和0.340。Logistic回归分析结果显示,对于rs3803662位点,与GG基因型相比,GA、AA和GA+AA基因型与乳腺癌的危险性无关(OR=0.846,95%CI:0.489～1.463,P=0.549;OR=0.802,95%CI:0.470～1.368,P=0.418;OR=0.821,95%CI:0.492～1.368,P=0.449);对于rs12443621位点,与GG基因型相比,GA、AA和GA+AA基因型与乳腺癌的危险性无关(OR=0.755,95%CI:0.518～1.099,P=0.755;OR=0.850,95%CI:0.528～1.368,P=0.504;OR=0.781,95%CI:0.548～1.112,P=0.170)。结论:在目前样本条件下,TOX3基因rs3803662和rs12443621位点多态性与中国北方汉族绝经前妇女乳腺癌易感性之间无明显关联。
Objective: To investigate the relationship between single nucleotide polymorphism of TOX3 gene and the risk of breast cancer in premenopausal women in northern Han Chinese. Methods: The TOX3 rs3803662 and rs12443621 polymorphisms of 280 premenopausal breast cancer patients and 287 premenopausal women with normal controls were detected by the method of multiplex single base extension SNP typing. Site genotypes and to compare the different genotypes with the risk of breast cancer. Results: The frequencies of rs3803662 and rs12443621 polymorphisms in TOX3 gene were not significantly different between breast cancer patients and controls, with P values of 0.718 and 0.340, respectively. Logistic regression analysis showed that genotype GA, AA and GA + AA were not associated with the risk of breast cancer (rs = 0.846, 95% CI: 0.489-1.463, P = 0.549 ; OR = 0.802, 95% CI: 0.470-1.368; P = 0.418; OR = 0.821, 95% CI: 0.492-1.368, P = 0.449); for rs12443621, compared with GG genotype, The genotype of GA + AA was not associated with the risk of breast cancer (OR = 0.755, 95% CI: 0.518-1.099, P = 0.755; OR = 0.850,95% CI: 0.528-1.368, P = 0.504; OR = 0.781,95 % CI: 0.548 ~ 1.112, P = 0.170). CONCLUSION: There is no significant correlation between TOX3 rs3803662 and rs12443621 polymorphisms and susceptibility to breast cancer in premenopausal women in northern Han Chinese under the current sample conditions.