摘要
目的肿瘤抑制基因p53及其细胞内负性调控因子MDM2参与了细胞内多种通路,p53基因第72位密码子(Arg72Pro)与MDM2基因309位点(T309G)多态性与多种肿瘤相关。本研究旨在探讨p53基因Arg72Pro、MDM2基因T309G单核苷酸多态性(SNPs)与中国东北女性人群乳腺癌易感性及其与各临床病理参数的相关性。方法用Taqman荧光探针结合实时定量聚合酶链反应检测305例乳腺癌患者和345例健康女性的p53 Arg72Pro和MDM2 T309G多态性。结果 p53基因Arg72Pro GC、GG、GC/GG基因型及G等位基因与乳腺癌易感性密切相关。MDM2 T309G TT基因型及T等位基因与乳腺癌发病风险增高密切相关。浸润性导管癌患者携带p53 Arg72Pro GC/GG基因型的分布频率明显增高(P=0.007)。ER阳性表达的患者携带MDM2T309G TT基因型的分布频率亦明显提高(P=0.009)。结论 p53 Arg72Pro G等位基因、MDM2 T309G T等位基因与乳腺癌发病风险增高相关;p53 Arg72Pro多态性与乳腺癌病理类型、MDM2 T309G与ER阳性表达状态相关联。
Objective The tumor suppressor gene p53 and its negative regulator murine double minute 2 （MDM2） are involved in multiple cellu- lar pathways. Two potentially functional single nueleotide polymorphisms （SNPs） MDM2 T309G and p53 Arg72Pm have been extensively investi- gated to be associated with several tumors. The aim of this study is to investigate the effects of MDM2 T309G and p53 Arg72Pro on the breast cancer risk in Northeast Chinese women. Methods MDM2 T309G and p53 Arg72Pro was examined by Taqman fluorescent probes and quantitative poly- merase chain reaction （ Real-time PCR） in 305 cases of female breast cancer patients and 345 cased of healthy women in Northeast China. Results The results demonstrated that the p53 Arg72Pro GC, GG, GC/GG genotype or G allele associated with increased risk for developing breast cancer. Moreover, MDM2 T309G TT genotype and T allele were associated with significantly increased risk for breast cancer. The distribution frequency of 1953 Arg72Pro GC/GG genotype was higher in invasive ductal carcinoma patients （P = 0.007 ）. In addition, the frequency of MDM2 T309G Tr geno- type was higher in the patients with ER positive status（P= 0.009）. Conclusion The polymorphisms of p53 Arg72Pro and MDM2T309G associat- ed with the susceptibility of breast cancer. The p53 Arg72Pro variants are related with the type of tumor; meanwhile, MDM2 T309G variants are rele- vant to the ER status of breast cancer patients.
出处
《中国医科大学学报》
CAS
CSCD
北大核心
2014年第3期205-208,共4页
Journal of China Medical University
基金
国家自然科学基金(80121886
81341063)
辽宁省科学技术计划(2012225002)
