摘要
目的探讨Sipal基因rs931127和rs746429多态性与乳腺癌外周血循环肿瘤细胞的关系。方法采用基因测序的方法，对124例原发性乳腺癌患者以及120例健康人进行Sipal基因rs931127和rs746429多态性分析。实时荧光定量聚合酶链反应（RT—qPCR）检测其中92例患者外周血循环肿瘤细胞，比较Sipal基因rs931127和rs746429多态性与外周血循环肿瘤细胞之间的关系。采用Fisher精确检验及非条件Logisitie回归法计算各组P值及相对危险度比（DR）及95％可信区间（95％CI）。结果Sipal基因rs931127和rs746429多态性与乳腺癌患者外周血循环肿瘤细胞无明显相关（P〉0．05）。Sipal基因rs931127和rs746429多态性与乳腺癌患者的年龄、肿块大小、雌激素受体（ER）、孕激素受体（PR）、C—erb—B2蛋白的表达以及乳腺癌分子分型均无明显相关（P〉0．05）。但Sipalrs931127野生型GG淋巴转移率22．6％，低于杂合型GA48．3％和突变型AA71．0％（P〈0．01），Sipalrs746429野生型cc的淋巴结转移率为31．4％，也低于杂合型cT64．2％及突变型_rr44．4％（P〈0．01）。结论Sipal基因rs931127多态性和rs746429多态性与乳腺癌患者外周血循环肿瘤细胞无明显相关，但与淋巴结转移有关。提示rs931127GA或AA以及rs746429CT或‘Trr基因型可能与乳腺癌淋巴转移有关。
Objective To investigate the correlation between the polymorphisms （rs931127 and rs746429） in signal-induced proliferation-associated 1 （ Sipal ） gene and circulating tumor cells in patients with breast cancer. Methods The polymorphisms of Sipal were detected by using polymerase chain reac- tion （PCR）-DNA sequencing in 124 primary breast cancer patients and 120 healthy controls. The circulat- ing tumor cells were detected by real-time quantitative PCR. Results The polymorphisms were not associ- ated with the circulating tumor ceils of the breast cancer patients （P 〉 0. 05 ）. rs931127 and rs746429 pol- ymorphisms of Sipal were not significantly associated with age, estrogen receptor status, progesterone re- ceptor status, and C-erbB2 overexpression of patients with breast cancer （P 〉 0. 05 ）. However, patients with the rs931127 homozygous for the wild-type GG genotype were less likely to have positive lymph node involvement （22. 6% ） than those with heterozygous GA （48.3%） and mutant AA genotype （71.0%） （P 〈 O. 01 ）. Patients with the rs746429 homozygous for the wild-type CC genotype were less likely to have positive lymph node involvement （31.4%） than patients with heterozygous CT （64. 2% ） and mutant TT genotype too （44.4%） （ P 〈 0. 01 ）. Conclusion The variants rs746429 and the rs931127 allele were not associated with the circulating tumor cells of the breast cancer patients, but associated with lymph node in- volvement, rs931127 A allele and rs746429 T allele in patients with breast cancer may be associated with lymphatic metastasis.
出处
《中华实验外科杂志》
CAS
CSCD
北大核心
2012年第8期1601-1604,共4页
Chinese Journal of Experimental Surgery
关键词
乳腺癌
转移
单核甘酸多态性
Sipa1
Breast cancer
Metastasis
Single nucleotide polymorphism
Sipal
