Zając Agnieszka, Stachowiak Grzegorz, Pertyński Tomasz, Romanowicz Hanna, Wilczyński Jacek, Smolarz Beata
Department of Pathology, Institute of Polish Mother's Memorial Hospital, Lodz, Poland.
Pol J Pathol. 2012 Dec;63(4):278-83. doi: 10.5114/pjp.2012.32776.
The prognostic value of the MDM2 gene amplification/expression in many types of cancer remains unclear. Polymorphisms in the promoter region of the MDM2 gene have been shown to alter the protein expression and thus, may play a role in carcinogenesis. The aim of the present study was to evaluate the association between the risk of endometrial cancer and SNP309 polymorphisms in the MDM2 gene. The genotype analysis of SNP309 MDM2 gene polymorphisms in 152 endometrial cancer patients and 100 controls of cancer-free subjects, in the Polish population, was performed using the PCR-based restriction fragment length polymorphism (PCR-RFLP). In the presented study, an association between MDM2 SNP309 polymorphisms and the incidence of endometrial cancer was identified. Our results obtained for the SNP309 polymorphisms of the MDM2 gene indicated that both the G/G genotype and the G allele are strongly associated with endometrial cancer. We did not observe any relationship between gene polymorphism and endometrial cancer progression assessed by FIGO grade. This is the first study linking single nucleotide polymorphisms of the MDM2 gene with endometrial cancer incidence in the population of Polish women. The results support the hypothesis that the SNP309 polymorphism of the MDM2 gene may be associated with the incidence of endometrial cancer in the female population.
MDM2基因扩增/表达在多种癌症中的预后价值仍不清楚。MDM2基因启动子区域的多态性已被证明会改变蛋白质表达,因此可能在致癌过程中发挥作用。本研究的目的是评估MDM2基因中SNP309多态性与子宫内膜癌风险之间的关联。在波兰人群中,对152例子宫内膜癌患者和100例无癌对照受试者进行了基于聚合酶链反应的限制性片段长度多态性(PCR-RFLP)分析,以检测MDM2基因SNP309的基因多态性。在本研究中,确定了MDM2 SNP309多态性与子宫内膜癌发病率之间的关联。我们对MDM2基因SNP309多态性的研究结果表明,G/G基因型和G等位基因均与子宫内膜癌密切相关。我们未观察到基因多态性与通过国际妇产科联盟(FIGO)分级评估的子宫内膜癌进展之间存在任何关系。这是第一项将MDM2基因单核苷酸多态性与波兰女性人群子宫内膜癌发病率联系起来的研究。研究结果支持以下假设:MDM2基因的SNP309多态性可能与女性人群子宫内膜癌的发病率有关。