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分析卵巢癌患者中 BCL2、BAX 和 c-MYC 基因的多态性和表达水平。

Analysis of the Polymorphisms and Expression Levels of the BCL2, BAX and c-MYC Genes in Patients with Ovarian Cancer.

机构信息

Clinic of Operational Gynecology, Poznan University of Medical Sciences, Polna 33, 60-535 Poznan, Poland.

Department of Personalized Medicine and Cell Therapy, Regional Blood Center, Marcelińska 44, 60-354 Poznan, Poland.

出版信息

Int J Mol Sci. 2023 Nov 14;24(22):16309. doi: 10.3390/ijms242216309.

Abstract

Ovarian cancer (OC) is one of the biggest problems in gynecological oncology and is one of the most lethal cancers in women worldwide. Most patients with OC are diagnosed at an advanced stage; therefore, there is an urgent need to find new biomarkers for this disease. Gene expression profiling is proving to be a very effective tool for exploring new molecular markers for OC patients, although the relationship between such markers and patient survival and clinical outcomes is still elusive. Moreover, polymorphisms in genes encoding both apoptosis-associated proteins and oncoproteins may serve as key markers of cancer susceptibility. The aim of our study was to analyze the polymorphisms and expressions of the , and genes in a group of 198 women, including 98 with OC. The polymorphisms and mRNA expressions of the , and genes were analyzed using real-time PCR. The analysis of the (rs4645878; G>A) and (rs4645943; C>T) polymorphisms showed no association with ovarian cancer risk. The polymorphism (rs2279115; C>A) showed a significant difference in the frequency of genotypes between the studied groups (CC: 23.47% vs. 16.00%, AA: 25.51% vs. 37.00%; = 0.046; OR = 1.61). Furthermore, the expression levels of the and genes showed a decrease at the transcript level for OC patients compared to the control group (: 17.46% ± 3.26 vs. 100% ± 8.32; < 0.05; : 37.56% ± 8.16 vs. 100% ± 9.12; < 0.05). No significant changes in the mRNA level were observed for the gene (104.36% ± 9.26 vs. 100% ± 9.44; > 0.05). A similar relationship was demonstrated in the case of the protein expressions of the studied genes. These findings suggest that the CC genotype and C allele of the polymorphism could be genetic risk factors for OC development. A gene expression analysis indicated that and are associated with OC risk.

摘要

卵巢癌 (OC) 是妇科肿瘤学中的最大问题之一,也是全球女性中最致命的癌症之一。大多数 OC 患者在晚期被诊断出来;因此,迫切需要为这种疾病找到新的生物标志物。基因表达谱分析被证明是探索 OC 患者新的分子标志物的非常有效的工具,尽管这些标志物与患者生存和临床结果之间的关系仍然难以捉摸。此外,凋亡相关蛋白和癌蛋白编码基因的多态性可能成为癌症易感性的关键标志物。我们的研究目的是分析一组 198 名女性(包括 98 名 OC 患者)中 、 和 基因的多态性和表达。使用实时 PCR 分析 、 和 基因的多态性和 mRNA 表达。对 (rs4645878; G>A) 和 (rs4645943; C>T) 多态性的分析显示与卵巢癌风险无关。 (rs2279115; C>A) 多态性在研究组之间的基因型频率存在显著差异(CC:23.47% vs. 16.00%,AA:25.51% vs. 37.00%; = 0.046;OR = 1.61)。此外,与对照组相比,OC 患者的 和 基因的转录水平表达降低( :17.46% ± 3.26 vs. 100% ± 8.32; < 0.05; :37.56% ± 8.16 vs. 100% ± 9.12; < 0.05)。 基因的 mRNA 水平没有明显变化(104.36% ± 9.26 vs. 100% ± 9.44; > 0.05)。在研究基因的蛋白表达中也证明了类似的关系。这些发现表明 基因的 CC 基因型和 C 等位基因可能是 OC 发展的遗传风险因素。基因表达分析表明 和 与 OC 风险相关。

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