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目的研究TNRC9/LOC643714基因rs3803662多态与中国妇女乳腺癌易感性及临床病理特征的关系。方法抽取321例乳腺癌患者和330例健康妇女外周血,分离淋巴细胞,抽提基因组DNA,采用聚合酶链反应-连接酶检测反应(PCR-LDR)检测rs3803662基因多态。危险度比值比(OR)及95%可信区间(CI),应用非条件Logistic回归分析计算。结果rs3803662低频等位基因频率在病例组和对照组分别为35.2%和35.7%。以TT基因型为参照,CT或CC基因型没有显著性地提高乳腺癌的发病风险。其中,携带CT基因型风险为(OR=0.834,95%CI:0.491～1.415),携带CC基因型风险为(OR=0.726,95%CI:0.431～1.225)。TNRC9/LOC643714基因rs3803662单核苷酸多态性与发病年龄、淋巴结转移、雌、孕激素受体状态等临床病理参数无相关性。结论有别于其他种族,TNRC9/LOC643714基因rs3803662的单核苷酸多态性与中国人群乳腺癌发生的遗传易感性及临床病理特征无明显关系。
Objective To study the relationship between the rs3803662 polymorphism of TNRC9 / LOC643714 gene and the susceptibility and clinicopathologic features of breast cancer in Chinese women. Methods Lymphocytes were isolated from peripheral blood of 321 breast cancer patients and 330 healthy women. Genomic DNA was extracted and the polymorphism of rs3803662 was detected by polymerase chain reaction - ligase assay (PCR-LDR). Risk odds ratio (OR) and 95% confidence interval (CI) were calculated using unconditional logistic regression analysis. Results The frequency of rs3803662 low frequency allele was 35.2% and 35.7% in case group and control group respectively. TT genotype as a reference, CT or CC genotype did not significantly increase the risk of breast cancer. Among them, the risk of carrying CT genotype was (OR = 0.834, 95% CI: 0.491-1.415). The risk of carrying CC genotype was (OR = 0.726, 95% CI: 0.431-1.225). The single nucleotide polymorphism of rs3803662 in TNRC9 / LOC643714 gene had no correlation with clinical pathological parameters such as age of onset, lymph node metastasis, estrogen and progesterone receptor status. Conclusion The polymorphism of TNRC9 / LOC643714 gene rs3803662 is not related to the genetic predisposition and clinicopathological features of breast cancer in Chinese population.