Activin A receptor type 1C single nucleotide polymorphisms associated with esophageal squamous cell carcinoma risk in Chinese population.

IF 2.5 4区医学 Q2 GASTROENTEROLOGY & HEPATOLOGY

World Journal of Gastrointestinal Oncology Pub Date : 2025-01-15 DOI:10.4251/wjgo.v17.i1.96702

Si-Yun Lin, Hou Huang, Jin-Jie Yu, Feng Su, Tian Jiang, Shao-Yuan Zhang, Lu Lv, Tao Long, Hui-Wen Pan, Jun-Qing Qi, Qiang Zhou, Wei-Feng Tang, Guo-Wen Ding, Li-Ming Wang, Li-Jie Tan, Jun Yin

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引用次数: 0

Abstract

Background: 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.

Aim: To evaluate the correlation between single nucleotide polymorphisms (SNPs) of ACVR1C and susceptibility to esophageal squamous cell carcinoma (ESCC) in Chinese Han population.

Methods: 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.

Results: 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 T_rs4664229A_rs4556933T_rs77886248C_rs77263459A_rs6734630 increased risk of ESCC, while T_rs4664229G_rs4556933T_rs77886248C_rs77263459A_rs6734630 was associated with lower susceptibility to ESCC.

Conclusion: 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.

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激活素A受体1C型单核苷酸多态性与中国人群食管鳞状细胞癌风险相关

背景：转化生长因子-β (TGF-β)超家族在肿瘤的进展和转移中起重要作用。激活素A受体1C （Activin A receptor type 1C, ACVR1C）是一种TGF-β I型受体，通过与不同配体的结合参与肿瘤发生。目的：探讨中国汉族ACVR1C基因单核苷酸多态性（snp）与食管鳞癌（ESCC）易感性的相关性。方法：在这项以医院为基础的队列研究中，纳入了1043名ESCC患者和1143名健康对照者。采用结扎检测反应法评估ACVR1C的5个snp位点（rs4664229、rs4556933、rs77886248、rs77263459、rs6734630）。进行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。结果：携带ACVR1C rs4556933 GA突变体的参与者患ESCC的风险显著降低，携带rs77886248 TA突变体的参与者患ESCC的风险较高，尤其是在老年男性吸烟者中。在单倍型分析中，ACVR1C Trs4664229Ars4556933Trs77886248Crs77263459Ars6734630增加ESCC的风险，而Trs4664229Grs4556933Trs77886248Crs77263459Ars6734630与ESCC的易感性较低相关。结论：ACVR1C rs4556933和rs77886248 snp与ESCC易感性相关，可为中国汉族ESCC早期诊断和治疗提供潜在靶点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

World Journal of Gastrointestinal Oncology Medicine-Gastroenterology

CiteScore

4.20

自引率

3.30%

发文量

1082

期刊介绍： The World Journal of Gastrointestinal Oncology (WJGO) is a leading academic journal devoted to reporting the latest, cutting-edge research progress and findings of basic research and clinical practice in the field of gastrointestinal oncology.