【摘要】 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。更多还原

【Abstract】 Objective: To investigate the association of the Sipa1-545(C/T) polymorphism with breast cancer risk and clinicopathologic characteristics in Chinese women with breast cancer. Methods: The Sipa1-545 (C/T) polymorphism was detected using the PCR-restriction fragment length polymorphism assay (PCR-RFLP) in 570 women with primary breast cancer and 541 healthy controls. Results: Among the 570 breast cancer patients, 49.1% were homozygous for the wild-type C/C genotype, 41.6% were heterozygous, and 9.3% were homozygous for the mutant T/T genotype. In the 541 healthy controls, 47.1% were homozygous for the wild-type C/C genotype, 42.1% were heterozygous, and 10.7% were homozygous for the mutant T/T genotype. The Sipa1-545 polymorphism was not significantly associated with breast cancer risk in Chinese women (age adjusted: OR=0.82, 95% CI: 0.52 to 1.28, P=0.37). The Sipa1-545 polymorphism was not significantly associated with age, clinical stage, tumor size, axillary lymph node involvement, estrogen receptor or progesterone receptor status (P>0.05) in 570 breast cancer patients. However, patients with the T/ T homozygous mutant genotype were more likely to have C-erbB2-positive tumors than heterozygous patients or those with homozygous C/C wild-type genotypes (50.0% vs. 31.9% or 28.6%, P=0.014). Conclusions: The sipa1-545(C/T) polymorphism is not associated with breast cancer risk in Chinese women, but the Sipa1-545 homozygous T/T mutant genotype may be associated with a more aggressive phenotype.更多还原