Lin Si-Yun, Huang Hou, Yu Jin-Jie, Su Feng, Jiang Tian, Zhang Shao-Yuan, Lv Lu, Long Tao, Pan Hui-Wen, Qi Jun-Qing, Zhou Qiang, Tang Wei-Feng, Ding Guo-Wen, Wang Li-Ming, Tan Li-Jie, Yin Jun
Department of Thoracic Surgery, Zhongshan Hospital Affiliated to Fudan University, Shanghai 200032, China.
Shanghai Key Laboratory of Clinical Geriatric Medicine, Huadong Hospital Affiliated to Fudan University, Shanghai 200040, China.
World J Gastrointest Oncol. 2025 Jan 15;17(1):96702. doi: 10.4251/wjgo.v17.i1.96702.
Transforming growth factor-β (TGF-β) superfamily plays an important role in tumor progression and metastasis. Activin A receptor type 1C (ACVR1C) is a TGF-β type I receptor that is involved in tumorigenesis through binding to different ligands.
To evaluate the correlation between single nucleotide polymorphisms (SNPs) of ACVR1C and susceptibility to esophageal squamous cell carcinoma (ESCC) in Chinese Han population.
In this hospital-based cohort study, 1043 ESCC patients and 1143 healthy controls were enrolled. Five SNPs (rs4664229, rs4556933, rs77886248, rs77263459, rs6734630) of ACVR1C were assessed by the ligation detection reaction method. Hardy-Weinberg equilibrium test, genetic model analysis, stratified analysis, linkage disequilibrium test, and haplotype analysis were conducted.
Participants carrying ACVR1C rs4556933 GA mutant had significantly decreased risk of ESCC, and those with rs77886248 TA mutant were related with higher risk, especially in older male smokers. In the haplotype analysis, ACVR1C TATCA increased risk of ESCC, while TGTCA was associated with lower susceptibility to ESCC.
ACVR1C rs4556933 and rs77886248 SNPs were associated with the susceptibility to ESCC, which could provide a potential target for early diagnosis and treatment of ESCC in Chinese Han population.
转化生长因子-β（TGF-β）超家族在肿瘤进展和转移中起重要作用。激活素A受体1C型（ACVR1C）是一种TGF-βI型受体，通过与不同配体结合参与肿瘤发生。
评估中国汉族人群中ACVR1C单核苷酸多态性（SNP）与食管鳞状细胞癌（ESCC）易感性之间的相关性。
在这项基于医院的队列研究中，纳入了1043例ESCC患者和1143例健康对照。采用连接检测反应法评估ACVR1C的5个SNP（rs4664229、rs4556933、rs77886248、rs77263459、rs6734630）。进行了Hardy-Weinberg平衡检验、遗传模型分析、分层分析、连锁不平衡检验和单倍型分析。
携带ACVR1C rs4556933 GA突变体的参与者患ESCC的风险显著降低，而携带rs77886248 TA突变体的参与者患ESCC的风险较高，尤其是老年男性吸烟者。在单倍型分析中，ACVR1C TATCA增加了ESCC的风险，而TGTCA与ESCC的易感性较低相关。
ACVR1C rs4556933和rs77886248 SNP与ESCC的易感性相关，可为中国汉族人群ESCC的早期诊断和治疗提供潜在靶点。
