鼠双微粒体2基因rs1625525和rs1196336位点基因多态性与乳腺癌遗传易感性的相关性研究

Association between Murine Double Minute2 Gene rs1625525 and rs1196336 Gene Polymorphisms and Genetic Susceptibility to Breast Cancer

目的探讨鼠双微粒体2(murine double minute 2,MDM2)基因rs1625525,rs1196336两个位点多态性与乳腺癌遗传易感性的关系。方法选取2021年1月~12月中国人民解放军联勤保障部队第九二三医院收治的乳腺癌患者176例,乳腺良性瘤患者156例,同期女性健康体检者203例作为研究对象,采用多重SNaPshot技术检测MDM2基因rs1625525A/G和rs1196336A/T两个位点的基因多态性,比较各组两位点基因型和等位基因频率,分析两个位点多态性与乳腺癌遗传易感性的关系。结果MDM2基因rs1625525位点的AA,AG和GG基因型在乳腺癌组的基因型频率分别为48.9%,39.2%和11.9%,在对照组的基因型频率分别为50.7%,44.3%和5.0%。三种基因型在对照组与乳腺癌组分布频率差异有统计学意义(χ^(2)=6.314,P<0.05),GG基因型和隐性模型可能增加乳腺癌的患病风险(OR=2.522,95%CI:1.115~5.708,P=0.026;OR=2.699,95%CI:1.221~5.966,P=0.014)。rs1196336位点在共显性模型、显性模型、隐性模型和等位基因模型与乳腺癌患病风险均无明显相关性(OR=1.045,95%CI:0.686~1.591;OR=1.048,95%CI:0.402~2.728;OR=1.045,95%CI:0.694~1.574;OR=1.026,95%CI:0.403~2.613;OR=1.031,95%CI:0.747~1.423,均P>0.05)。结论MDM2基因rs1625525位点GG基因型和隐性模型可能增加乳腺癌的患病风险,rs1196336位点基因多态性与乳腺癌的发病风险无明显相关性。

Objective To investigate the relationshif murine double minute2(MDM2)gene rs1625525 and rs1196336 and the genetic susceptibility of breast cancer.Methods From January 2021 to December 2021,176 breast cancer patients,156 breast benign tumor patients,and 203 female healthy people who were admitted to the 923rd Hospital of the PLA Joint Logistic Support Forcey were selected as the research objects.Multiplex SNaPshot technique was used to detect the gene polymorphism of MDM2 gene rs1625525A/G and rs1196336A/T,the genotypes and allele frequencies of the two loci in each group were compared,and the relationship between polymorphisms of the two loci and genetic susceptibility to breast cancer was analyzed.Results The frequencies of AA,AG and GG genotypes at rs1625525 of MDM2 gene were 48.9%,39.2%and 11.9%in breast cancer group,and 50.7%,44.3%and 5.0%in control group,respectively.The three genotypes had statistically significant differences in the distribution frequencies of the control group/breast cancer group(χ^(2)=6.314,P<0.05),and the GG genotype and recessive model may increase the risk of breast cancer(OR=2.522,95%CI:1.115~5.708,P=0.026;OR=2.699,95%CI:1.221~5.966,P=0.014).There was no significant correlation between the rs1196336 locus and the risk of breast cancer in the co-dominant model,dominant model,recessive model,and allele model(OR=1.045,95%CI:0.686~1.591;OR=1.048,95%CI:0.402~2.728;OR=1.045,95%CI:0.694~1.574;OR=1.026,95%CI:0.403~2.613;OR=1.031,95%CI:0.747~1.423,all P>0.05).Conclusion MDM2 gene rs1625525 locus GG genotype and recessive model may increase the risk of breast cancer,and rs1196336 gene polymorphism has no significant correlation with the risk of breast cancer.