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目的观察负调控因子鼠双微体2(MDM2)基因的单核苷酸(SNP)309多态性与子宫内膜样腺癌易感性及淋巴结转移的相关性。方法入选在我院手术的子宫内膜样腺癌患者187例为试验组,以同期参与常规体格检查的40岁以上健康妇女200例作为对照组。用DNA抽提试剂盒从研究对象的外周血标本中提取DNA,用限制性片段长度多态性聚合酶链反应(PCR-RFLP)技术测定MDM2-SNP309单核苷酸多态基因型。结果试验组的MDM2-SNP309 G等位基因频率为61.76%,对照组为48.75%,差异有统计学意义(P<0.05);其中试验组GG基因型频率为39.57%,对照组为19.50%,差异有统计学意义(P<0.01)。试验组GG基因型发生淋巴结转移的概率为28.38%,TG型为8.43%,TT型为6.67%,差异有统计学意义(GG vs TG,P<0.01;GG vs TT,P<0.05)。结论 MDM2基因SNP309纯合子GG基因型是子宫内膜样腺癌发生的遗传易感因素,也是发生淋巴结转移的危险因素。
Objective To investigate the association between single nucleotide polymorphism (SNP) 309 of negative regulator gene MDM2 gene and susceptibility to endometrial adenocarcinoma and lymph node metastasis. Methods A total of 187 patients with endometrioid adenocarcinoma who underwent surgery in our hospital were selected as the experimental group. 200 healthy women over the age of 40 who participated in routine physical examination in the same period were selected as the control group. DNA was extracted from the peripheral blood of the study subjects by DNA extraction kit, and the MDM2 SNP309 SNP genotypes were determined by PCR-RFLP (restriction fragment length polymorphism polymerase chain reaction). Results The frequency of MDM2 SNP309 G allele was 61.76% in the experimental group and 48.75% in the control group (P <0.05). The frequency of GG genotype was 39.57% in the experimental group and 19.50% in the control group, The difference was statistically significant (P <0.01). The incidence of lymph node metastasis was 28.38% in GG genotype, 8.43% in TG genotype and 6.67% in TT genotype. The difference was statistically significant (GG vs TG, P <0.01; GG vs TT, P <0.05). Conclusions Genotypes of MDM2 gene SNP309 homozygote GG are the genetic predisposing factors of endometrial adenocarcinoma and the risk factors of lymph node metastasis.