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中国人群中激活素A受体1C变体对食管鳞状细胞癌的易感性

Esophageal squamous cell carcinoma susceptibility of activin A receptor type 1C variants in Chinese population.

作者信息

Kumar Shashank

机构信息

Department of Biochemistry, Central University of Punjab, Bathinda 151401, Punjab, India.

出版信息

World J Gastrointest Oncol. 2025 Jun 15;17(6):102687. doi: 10.4251/wjgo.v17.i6.102687.

Abstract

Lin 's investigation on the association of activin A receptor type 1C (ACVR1C) (transforming growth factor beta type I receptor) single nucleotide polymorphisms (SNPs) with esophageal squamous cell carcinoma (ESCC) risk in the Chinese population is a scientific approach. This study explores the susceptibility of ACVR1C polymorphism towards ESCC in the Chinese population, highlighting the polymorphism's potentiality as an early diagnostic and therapeutic target. The author assessed about a thousand ESCC Chinese patients' samples for ACVR1C SNPs in a hospital-based cohort study using the ligation detection reaction method. Further, the hypothesis was tested using appropriate statistical genetic models and stratified analysis. ACVR1C SNPs can help assess ESCC susceptibility stratification and provide valuable information for individual diagnosis and treatment of ESCC patients. In order to account for confounding variables, find genuine SNP-disease relationships, boost statistical power, and make biological interpretation easier, it is imperative that genetic association studies of ESCC incorporate pertinent clinical aspects.

摘要

林关于激活素A受体1C型(ACVR1C)(转化生长因子βI型受体)单核苷酸多态性(SNP)与中国人群食管鳞状细胞癌(ESCC)风险之间关联的研究是一种科学方法。本研究探讨了ACVR1C多态性对中国人群ESCC的易感性,突出了该多态性作为早期诊断和治疗靶点的潜力。在一项基于医院的队列研究中,作者使用连接检测反应方法评估了约一千例中国ESCC患者样本中的ACVR1C SNP。此外,使用适当的统计遗传模型和分层分析对假设进行了检验。ACVR1C SNP有助于评估ESCC易感性分层,并为ESCC患者的个体诊断和治疗提供有价值的信息。为了考虑混杂变量、找到真正的SNP与疾病的关系、提高统计效力并便于进行生物学解释,ESCC的遗传关联研究必须纳入相关临床因素。

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