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

作　　者：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 

机构地区：[1]Department of Thoracic Surgery,Zhongshan Hospital Affiliated to Fudan University,Shanghai 200032,China [2]Shanghai Key Laboratory of Clinical Geriatric Medicine,Huadong Hospital Affiliated to Fudan University,Shanghai 200040,China [3]Department of Cardiothoracic Surgery,The Affiliated People's Hospital of Jiangsu University,Zhenjiang 212002,Jiangsu Province,China [4]Department of Thoracic Surgery,Sichuan Cancer Hospital&Institute,Chengdu 610042,Sichuan Province,China [5]Department of Cardiothoracic Surgery,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210000,Jiangsu Province,China [6]Department of Respiratory and Critical Care Medicine,Shanghai Xuhui Central Hospital,Shanghai 200032,China

出　　处：《World Journal of Gastrointestinal Oncology》2025年第1期39-51,共13页世界胃肠肿瘤学杂志（英文）

基　　金：Supported by The National Natural Science Foundation of China,No.82350127 and No.82241013;the Shanghai Natural Science Foundation,No.20ZR1411600;the Shanghai Shenkang Hospital Development Center,No.SHDC2020CR4039;the Bethune Ethicon Excellent Surgery Foundation,No.CESS2021TC04;Xuhui District Medical Research Project of Shanghai,No.SHXH201805.

摘　　要：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-βtype I receptor that is involved in tumorigenesis through binding to dif-ferent 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 disequi-librium 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 Trs4664229Ars4556933Trs77886248Crs77263459Ars6734630 increased risk of ESCC,while Trs4664229Grs4556933Trs77886248Crs77263459Ars6734630 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.

关 键 词：Activin A receptor type 1C Single nucleotide polymorphisms Esophageal squamous cell carcinoma Genetic susceptibility Hospital-based cohort study 

分 类 号：R735.1[医药卫生—肿瘤]