Min Su, Li Qin, Li Zhilong, Huang Hongxiao, Zheng Xuelian, Song Yaping, Ye Zhishan, Tang Zhichen, Zhou Bin, Li Tianyu, Wang Yanyun
Laboratory of Molecular Translational Medicine, Center for Translational Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, P.R. China.
Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, P.R. China.
Genet Test Mol Biomarkers. 2025 Feb;29(2):39-47. doi: 10.1089/gtmb.2024.0374.
Cervical cancer (CC) is the most prevalent gynecological tumor among women. Cyclin-dependent kinase 8 (), which plays a crucial role in cellular transcriptional processes and various signaling pathways, has been identified as a key oncogenic factor in numerous cancers. However, limited data exists on the correlation between and CC. The objective of our study was to investigate whether there is an association between gene polymorphisms and the development of CC in Han women from Southwest China. A total of 300 unrelated CC patients and 335 healthy controls from Southwest China were included in the study. The polymerase chain reaction-restriction fragment length polymorphism analysis was used to genotype the two tag single nucleotide polymorphisms (SNPs) of gene (rs17083838 and rs7992670), and the relationship between the two tag SNPs and CC incidence was analyzed by SNPstats software. Multifactor dimensionality reduction (MDR) was used to analyze the interaction of multiple polymorphisms of the gene. The false-positive report probability (FPRP) was used to verify the effective correlation. The frequency of the A allele of rs17083838 in the CC group was significantly higher than that in the control group (25% vs. 12%, < 0.0001, odds ratio (OR): 0.42, 95% confidence intervals [CI]: 0.31-0.58). The frequency of the A allele at rs7992670 was higher in the CC group than that in the control group (52% vs. 45%, = 0.026, OR: 0.78, 95% CI: 0.63-0.97). MDR analysis showed that rs17083838 and rs7992670 as the overall model was the best model, the detection accuracy was 0.6157, and the cross-validation consistency was 10/10 ( < 0.0001). In addition, 22 valid FRPR values were verified by using the FPRP detection method. The two SNPs of the gene may be associated with the increased risk of CC in the Han population in Southwest China.
宫颈癌（CC）是女性中最常见的妇科肿瘤。细胞周期蛋白依赖性激酶8（ ）在细胞转录过程和各种信号通路中起关键作用，已被确定为多种癌症中的关键致癌因素。然而，关于 与CC之间相关性的数据有限。我们研究的目的是调查中国西南地区汉族女性中 基因多态性与CC发生之间是否存在关联。该研究共纳入了300名来自中国西南地区的无血缘关系的CC患者和335名健康对照。采用聚合酶链反应-限制性片段长度多态性分析对 基因的两个标签单核苷酸多态性（SNP）（rs17083838和rs7992670）进行基因分型，并通过SNPstats软件分析这两个标签SNP与CC发病率之间的关系。使用多因素降维法（MDR）分析 基因多个多态性的相互作用。采用假阳性报告概率（FPRP）来验证有效相关性。CC组中rs17083838的A等位基因频率显著高于对照组（25%对12%， < 0.0001，优势比（OR）：0.42，95%置信区间[CI]：0.31 - 0.58）。rs7992670处A等位基因在CC组中的频率高于对照组（52%对45%， = 0.026，OR：0.78，95% CI：0.63 - 0.97）。MDR分析表明，以rs17083838和rs7992670作为整体模型是最佳模型，检测准确率为0.6157，交叉验证一致性为10/10（ < 0.0001）。此外，使用FPRP检测方法验证了22个有效的FPRP值。 基因的这两个SNP可能与中国西南地区汉族人群中CC风险增加有关。
