Sipa1-545(C/T)基因多态与乳腺癌发病风险及临床病理参数相关性研究

Association of Sipa1-545(C/T) Polymorphism with Breast Cancer Risk and Tumor Characteristics in Chinese Women

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 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% Cl： 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 Sipal-545 homozygous T/T mutant genotype may be associated with a more aggressive phenotype.