Yu Jinjie, Dong Yunpeng, Tang Weifeng, Pan Huiwen, Lv Lu, Long Tao, Zhou Qiang, Qi Junqing, Liu Jianchao, Ding Guowen, Yin Jun, Tan Lijie
Department of Thoracic Surgery, Zhongshan Hospital of Fudan University, Shanghai, People's Republic of China.
Department of Cardiothoracic Surgery, Affiliated People's Hospital of Jiangsu University, Jiangsu, People's Republic of China.
Pharmgenomics Pers Med. 2020 Aug 24;13:355-363. doi: 10.2147/PGPM.S250076. eCollection 2020.
The TGF-β signal pathways play a key role in the development and promotion of squamous cell carcinoma (SCC). The pathway is mediated by the family proteins that include and . Our study aimed to evaluate the relationship between single nucleotide polymorphism (SNP) of and susceptibility to esophageal squamous cell carcinoma (ESCC) in the Chinese population.
This was a hospital-based case-control study compromised of 1043 ESCC patients and 1315 non-cancer patients. Seven (rs8028147, rs3743343, rs3743342, rs8025774, rs8031440, rs803167, and rs34643453) SNPs were selected and used to evaluate their correlation with ESCC susceptibility. Genetic model tests, stratified analyses, linkage disequilibrium analyses, and haplotype analyses were performed in our study.
Participants with rs3743342 C>T, rs8025774 C>T, rs8031440 G>A or rs8031627 G>A had a significantly higher risk of ESCC. This was more evident in males, older patients (>63 years), smokers, and non-alcohol drinking participants. Linkage disequilibrium analyses further revealed that there were strong correlations between rs3743342 C>T, rs8025774 C>T, rs8031440 G>A, and rs8031627 G>A. In the same line, haplotype analyses revealed that ACCCGGA and AGCCGGA were associated with less susceptibility to ESCC while ATTTAAA was associated with a higher risk of ESCC.
SNPs of were related to higher susceptibility to ESCC. As such, they may contribute to the development of viable strategies for early diagnosis and treatment of ESCC. However, more detailed association mechanisms between SNPs and ESCC need further experiments to prove.
转化生长因子-β（TGF-β）信号通路在鳞状细胞癌（SCC）的发生和发展中起关键作用。该通路由包括[具体蛋白名称1]和[具体蛋白名称2]在内的家族蛋白介导。我们的研究旨在评估[基因名称]单核苷酸多态性（SNP）与中国人群食管鳞状细胞癌（ESCC）易感性之间的关系。
这是一项基于医院的病例对照研究，包括1043例ESCC患者和1315例非癌症患者。选择了7个[基因名称]（rs8028147、rs3743343、rs3743342、rs8025774、rs8031440、rs803167和rs34643453）SNP，用于评估它们与ESCC易感性的相关性。我们的研究进行了遗传模型测试、分层分析、连锁不平衡分析和单倍型分析。
携带[基因名称]rs3743342 C>T、rs8025774 C>T、rs8031440 G>A或rs8031627 G>A的参与者患ESCC的风险显著更高。在男性、老年患者（>63岁）、吸烟者和不饮酒参与者中更为明显。连锁不平衡分析进一步显示，[基因名称]rs3743342 C>T、rs8025774 C>T、rs8031440 G>A和rs8031627 G>A之间存在强相关性。同样，单倍型分析显示，[基因名称]ACCCGGA和AGCCGGA与ESCC易感性较低相关，而ATTTAAA与ESCC风险较高相关。
[基因名称]的SNP与ESCC易感性较高有关。因此，它们可能有助于制定ESCC早期诊断和治疗的可行策略。然而，[基因名称]SNP与ESCC之间更详细的关联机制需要进一步实验来证明。
