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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(SNP309)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/C基因型。统计分析病例组和对照组人群MDM2 SNP309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 SNP309 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:O.8～1.6,P=0.30;G/G,adiusted OR=I.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,adiusted OR=1.9,95%CI:1.2～33,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。
OBJECTIVE: To detect the frequency distribution of SNP309 in the 309 locus of MDM2 promoter region in Chinese female population using a case-control study and to analyze its relationship with the risk of breast cancer in Chinese women. Methods: The DNA of peripheral blood mononuclear cells from 698 cases of primary breast cancer patients and 525 healthy controls were extracted and analyzed by PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) MDM2 promoter 309 locus polymorphism, to determine the three loci genotypes, namely T / T, T / G, G / C genotype. The frequency distribution of each genotype of MDM2 SNP309 in the case group and the control group were statistically analyzed, and the correlation between each genotype and the risk of breast cancer was analyzed. Results: Compared with MDM2 SNP309 T / T genotype, T / G genotype and G / G genotype were positively correlated with genotypes of MDM2 SNP309 in the study population and the control group as a whole after adjustment for age, menstrual status, family history, The risk of breast cancer was not significantly correlated (T / G, adjusted OR = 1.2, 95% CI: 0.8-1.6, P = 0.30; 1.5, P = 0.88). Further stratification analysis showed that T / G genotype and G / G genotype significantly increased the risk of breast cancer (T / G, adjusted OR = 1.8, 95) in postmenopausal women compared with T / T genotype % CI: 1.2-3.0, P = 0.011; G / G, adiusted OR = 1.9, 95% CI: 1.2-33, P = 0.014). It is suggested that the risk of breast cancer in men with postmenopausal women carrying T / G type G / G is 1.8 and 1.9 times higher than those with T / T genotype. In the premenopausal population, there was no significant correlation between genotype and risk of breast cancer (P> 0.05). Conclusion: MDM2 promoter 309 mutation site G allele significantly increased the risk of postmenopausal women with breast cancer.