Feng Yanan, Wang Zhenzhen, Zhu Manning, Li Songxue, Dong Shuang, Gong Liping, Li Xiaoying, Zhang Shuang, Jia Tianshuang, Kong Xianchao, Tian Jiawei, Sun Litao
Cancer Center, Department of Ultrasound Medicine, Zhejiang Provincial People's Hospital, Hangzhou, China.
Department of Ultrasound, The Second Affiliated Hospital of Harbin Medical University, Harbin, China.
Front Oncol. 2022 Jun 24;12:878529. doi: 10.3389/fonc.2022.878529. eCollection 2022.
Cervical cancer (CC) is one of the main malignant tumors that threaten the health and lives of women around the world, and its morbidity and mortality rate ranks fourth. At present, most studies on the genetic background of CC focus on genetic polymorphisms. Single nucleotide polymorphisms (SNPs) are considered clinically as potential diagnostic and therapeutic biomarkers for a variety of tumors. Therefore, we aimed to explore the association between SNPs in different genes ( gene, gene, gene and gene) and susceptibility to CC. This study is a case-control study based on women in northern Chinese, which included 492 women with CC and 510 healthy women. This study used multiplex PCR combined with next-generation sequencing to genotype the selected SNPs (rs13117307(C/T) in gene, rs2279115(C/A) in gene, rs6983267(G/T) in gene and rs7248320(G/A) in gene). The results of the study showed that there was no significant association between the four SNPs and the susceptibility to CC. However, in further stratified analysis, we found that rs13117307 and rs2279115 were significantly related to squamous cell carcinoma antigen (SCC-Ag) levels in women with CC, and rs6983267 was significantly related to the menopausal status of women with CC. Specifically, alleles T of rs13117307 and genoytpe AA of rs2279115 when SCC-Ag is greater than 1.5 ng/ml increase the risk of CC. The genotype TG/TG+TT of rs6983267 increases the risk of CC in premenopausal women. In conclusion, although we did not directly find a significant correlation between four SNPs, rs13117307 in EXOC1 gene,rs2279115 in BCL2 gene, rs6983267 in CCAT2 gene and rs7248320 in CARD8 gene, and CC susceptibility, we found that SNPs rs13117307, rs2279115, rs6983267 were associated with the clinical characteristics of several patients' CC patients. Therefore, this study provides us with new ideas for understanding CC and the diagnosis and treatment of CC in the future.
宫颈癌（CC）是威胁全球女性健康和生命的主要恶性肿瘤之一，其发病率和死亡率位居第四。目前，大多数关于CC遗传背景的研究集中在基因多态性方面。单核苷酸多态性（SNPs）在临床上被认为是多种肿瘤潜在的诊断和治疗生物标志物。因此，我们旨在探讨不同基因（基因、基因、基因和基因）中的SNPs与CC易感性之间的关联。本研究是一项基于中国北方女性的病例对照研究，包括492例CC女性患者和510例健康女性。本研究采用多重PCR结合下一代测序技术对选定的SNPs（基因中的rs13117307(C/T)、基因中的rs2279115(C/A)、基因中的rs6983267(G/T)和基因中的rs7248320(G/A)）进行基因分型。研究结果表明，这四个SNPs与CC易感性之间无显著关联。然而，在进一步的分层分析中，我们发现rs13117307和rs2279115与CC女性患者的鳞状细胞癌抗原（SCC-Ag）水平显著相关，rs6983267与CC女性患者的绝经状态显著相关。具体而言，当SCC-Ag大于1.5 ng/ml时，rs13117307的T等位基因和rs2279115的AA基因型会增加CC风险。rs6983267的TG/TG+TT基因型会增加绝经前女性患CC的风险。总之，虽然我们没有直接发现EXOC1基因中的rs13117307、BCL2基因中的rs2279115、CCAT2基因中的rs6983267和CARD8基因中的rs7248320这四个SNPs与CC易感性之间存在显著相关性，但我们发现SNPs rs13117307、rs2279115、rs6983267与部分CC患者的临床特征相关。因此，本研究为我们未来理解CC以及CC的诊断和治疗提供了新思路。
