MDM2 启动子区309 位点基因多态性与乳腺癌风险的关系*

Association between MDM2 SNP 309 Polymorphism and Breast Cancer Risk in Chinese Women

  • 摘要: 目的:采用病例- 对照研究检测MDM2 启动子区309 位点T>G 单核苷酸多态(SNP 309)在中国女性人群中的频率分布,分析其与中国女性乳腺癌发病风险的关系。方法:提取病例组698 例原发性乳腺癌患者及对照组525 例健康人的外周血单核细胞DNA,采用聚合酶链反应- 限制性片段长度多态性(PCR-RFLP )分析法,检测MDM2 启动子区309 位点基因多态性,确定此位点三种基因型,即T/T、T/G、G/G 基因型。统计分析病例组和对照组人群MDM2 SNP 309 各基因型频率分布,及各基因型与乳腺癌发病风险的相关性。结果:在研究的病例组与对照组整体人群中,经年龄、月经状态、家族史及生育史等因素校正后,与MDM2 SNP 309 T/T基因型比较,T/G 型及G/G 型与乳腺癌的发病风险无显著相关性(T/G,adjusted OR= 1.2,95%CI:0.8~1.6,P=0.30;G/G,adjusted OR= 1.0,95%CI:0.7~1.5,P=0.88)。 进一步分层分析后显示:在绝经后人群中,与T/T基因型比较,T/G 基因型及G/G 基因型显著增加乳腺癌的发病风险(T/G,adjusted OR= 1.8,95%CI:1.2~3.0,P=0.011;G/G,adjusted OR= 1.9,95%CI:1.2~3.3,P=0.014)。 提示绝经后人群携带T/G 型、G/G 型者比携带T/T基因型者患乳腺癌的风险分别升高约1.8、1.9 倍。在绝经前人群中,各基因型与乳腺癌的发病风险无显著相关性(P>0.05)。 结论:MDM2 启动子309 位点突变型G 等位基因携带者显著增加绝经后女性乳腺癌的发病风险。

     

    Abstract: Objective: To investigate the correlation of MDM2 SNP309 polymorphism with breast cancer risk in Chinese women. Methods:The polymorphism of MDM2 SNP309 was detected by PCR-restriction frag-ment length polymorphisms assay (PCR-RFLP) in 698 women with primary breast cancer and 525 healthy controls. Results: Compared with the T/T genotype, the G allele (T/G or G/G) was not associated with an in-creased risk of breast cancer in the entire population studied (T/G, adjusted OR=1.2, 95% CI: 0.8~1.6, P=0.30; G/G, adjusted OR=1.0, 95% CI:0.7~1.5, P=0.88). Among postmenopausal women, the G allele (T/G or G/G) was significantly associated with an increased risk of breast cancer (T/G, adjusted OR=1.8, 95% CI: 1.2~3.0, P=0.011 ; G/G, adjusted OR=1.9, 95% CI: 1.2~3.3, P=0.014 ). But this association was not ob -served among premenopausal women. Conclusion:MDM2 SNP309 heterozygous T/G genotype and homozy-gous mutant G/G genotype increase breast cancer risk in postmenopausal Chinese women.

     

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