目的：探讨鼠双微体基因（MDM2）启动子区rs2279744位点单核苷酸多态性与乳腺癌发病风险的关系。方法：检索多个国内外文献数据库，收集MDM2启动子区rs2279744位点基因多态性与乳腺癌的风险关系的病例对照研究，筛选出符合标准的文献，提取数据后行Meta分析，并对结果进行敏感性分析与发表偏倚评价。结果：共纳入28篇文献，共计乳腺癌病例组11 804例，对照组15 209例。Meta分析结果显示，总人群中突变型与野生型（TG/GG vs. TT）与等位基因（G vs. T）均有明显差异（OR=1.15，95% CI=1.06~1.24，P<0.001；OR=1.12，95%=1.05~1.18，P<0.001）；按洲别分亚组分析显示，两者仅在亚洲人群中有明显差异（TG/GG vs. TT：随机效应模型OR=1.34，95% CI=1.15~1.57，P<0.001，固定效应模型OR=1.34，95% CI=1.20~1.50，P<0.001；G vs. T：随机效应模型OR=1.21，95% CI=1.09~1.35，P=0.001）。敏感性分析与Egger检验显示结论可靠，无明显偏倚。结论：亚洲人群MDM-2基因rs2279744位点的突变纯合子/杂合子（GG/TG）型相对于野生型（TT）的个体乳腺癌发病风险增加，MDM-2基因rs2279744位点的突变与亚洲人群乳腺癌密切相关。
Association between single nucleotide polymorphisms of rs2279744 locus in MDM2 promoter region and risk of breast cancer: a Meta-analysis
Objective: To investigate the association between the single nucleotide polymorphisms (SNPs) of rs2279744 locus in the promoter region of mouse double minute 2 homolog (MDM2) gene and risk of breast cancer. Methods: Case-control studies regarding the association between the SNPs of MDM2 rs2279744 locus and risk of breast cancer were collected by searching several national and international databases. The eligible studies were screened out according to the criteria. Meta-analysis was performed following data extraction, and the sensitivity and publication bias were also analyzed. Results: Twenty-eight case-control studies were included, with 11 804 breast cancer patients in case group and 152 09 subjects in control group. The results of Meta-analysis showed that there were significant differences in mutant genotype and wild genotype (TG/GG vs. TT) as well as in alleles (G vs. T) in the overall population (OR=1.15, 95% CI=1.06–1.24, P<0.001; OR=1.12, 95% CI=1.05–1.18, P<0.001); subgroup analysis divided by different continents reveal that those differences only found in Asia’s population (TG/GG vs. TT: OR=1.34, 95% CI=1.15–1.57, P<0.001 by random effects model, OR=1.34, 95% CI=1.20–1.50, P<0.001 by fixed effect model; G vs. T: OR=1.21, 95% CI=1.09–1.35, P=0.001 by random effects model). The sensitivity analyses and Egger’s tests verified the reliable conclusions and no obvious publication biases. Conclusion: Asian individuals with mutant genotype homozygote (GG) and heterozygous (TG) in MDM2 rs2279744 locus have a higher risk of breast cancer than those with wild genotype (TT). Mutations in MDM2 rs2279744 locus are closely associated with the risk of breast cancer in Asians.