Introduction: Breast cancer is a heterogeneous and multifactorial disease. TP53 and PAI-1 as important tumor suppressor genes are involved in the development, invasion, and metastasis of many cancers. This study’s objective was to demonstrate the combined genotype effects of these 2 genes by investigating their single nucleotide polymorphisms. Methods: In this case-control study, 200 individuals with breast cancer and 179 healthy individuals were studied. The genotypes were determined using the tetra-ARMS method. For data analysis, MDR, online javstat statistics package, and SPSS v.24 software were used. Also, in silico studies on the estimated effects of each of these polymorphisms were performed. Results: We showed a novel gene-gene interaction of these 2 genes and demonstrated a strong synergistic interaction for TP53/PAI-1, moderate synergistic interaction for PAI-1/age, and correlation for TP53/age. On the other hand, there was no association between the allelic and genotype frequency alone and in combination, with case-control status, using the parametric method, between TP53 and PAI-1. Discussion/Conclusion: Our findings suggest that the polymorphism of codon 72 of the TP53 gene was significantly associated with tumor stage (p #x3c; 0.023). In conclusion, we showed a gene-gene interaction between TP53 and PAI-1, in combination, using the MDR method.
Hum Hered

中文翻译：

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TP53 和 PAI-1 多态性在乳腺癌易感性中的联合基因型效应：多因素降维和计算机分析

简介：乳腺癌是一种异质性和多因素的疾病。TP53和PAI-1作为重要的抑癌基因，参与了多种癌症的发生、侵袭和转移。本研究的目的是通过研究它们的单核苷酸多态性来证明这两个基因的组合基因型效应。方法：在这项病例对照研究中，对 200 名乳腺癌患者和 179 名健康人进行了研究。使用四ARMS方法确定基因型。对于数据分析，使用了 MDR、在线 javstat 统计软件包和 SPSS v.24 软件。此外，还对这些多态性中的每一个的估计影响进行了计算机研究。结果：我们展示了这两个基因的新型基因-基因相互作用，并证明了TP53/PAI-1的强协同相互作用、 PAI-1 /age 的适度协同相互作用和TP53 / age 的相关性。另一方面，在TP53和PAI-1之间，使用参数方法，等位基因频率和基因型频率单独以及与病例对照状态组合之间没有关联。讨论/结论：我们的研究结果表明，TP53基因密码子 72 的多态性与肿瘤分期显着相关（p #x3c；0.023）。总之，我们展示了TP53之间的基因 - 基因相互作用和PAI-1结合使用，使用 MDR 方法。
赫瑞德