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目的:研究Sipal-545基因多态与中国女性乳腺癌临床病理特征及发病风险的关系。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测570例原发性乳腺癌患者及541例对照组健康人群Sipal-545基因多态,分析基因多态性与乳腺癌发病风险及临床病理特征的相关性。结果:在570例乳腺癌患者中,Sipal-545(C/T)基因多态三种基因型分布频率为野生型C/C 49.1%(280/570)、杂合型C/T 41.6%(237/570)、突变型T/T 9.3%(53/570);在541例健康对照人群中Sipal-545基因多态分布频率为:C/C型47.1%(255/541)、C/T型42.1%(228/541)、T/T型10.7%(58/541)。Sipal-545基因多态与中国女性乳腺癌的发病风险无显著相关性(校正年龄后OR=0.82,95%CI:0.52～1.28,P=0.37)。且Sipal-545基因多态与乳腺癌患者发病年龄、腋淋巴结转移状态、TNM分期、雌激素受体(estrogen receptor,ER)和孕激素受体(progestogen receptor,PR)状态等均无显著相关性。但Sipal-545基因多态与C-erbB2蛋白表达呈显著相关,Sipal-545 T/T纯合突变型患者C-erbB2蛋白阳性表达率显著高于C/T杂合型和C/C纯合野生型患者(50.0% vs 31.9% or 28.6%,P=0.014)。结论:Sipal-545基因多态与中国女性乳腺癌的发病风险无关,但是携带Sipal-545 T/T者可能更具恶性行为。
Objective: To investigate the relationship between Sipal-545 polymorphism and clinicopathological features and risk of breast cancer in Chinese women. Methods: Sipal-545 gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 570 cases of primary breast cancer and 541 cases of control group, and the relationship between gene polymorphism and Correlation of breast cancer risk and clinicopathological features. Results: The frequencies of three genotypes of Sipal-545 (C / T) polymorphism in 570 patients with breast cancer were 49.1% (280/570) wild type C / T and 41.6% (heterozygous C / T) The frequency of polymorphism of Sipal-545 gene was 47.1% (255/541) in C / C and C / T Type 42.1% (228/541), T / T type 10.7% (58/541). There was no significant correlation between Sipal-545 polymorphism and the risk of breast cancer in Chinese women (OR = 0.82, 95% CI: 0.52-1.28, P = 0.37 after adjustment for age). There was no significant correlation between Sipal-545 polymorphism and age of onset, axillary lymph node metastasis, TNM staging, estrogen receptor (ER) and progestogen receptor (PR) status in patients with breast cancer . However, the Sipal-545 polymorphism was significantly associated with C-erbB2 protein expression, and the positive rate of C-erbB2 protein expression in Sipal-545 T / T homozygous mutant group was significantly higher than that of C / T heterozygosity and C / C homozygote Wild-type patients (50.0% vs 31.9% or 28.6%, P = 0.014). Conclusion: The Sipal-545 polymorphism is not associated with the risk of breast cancer in Chinese women, but the Sipal-545 T / T may be more malignant.