Association study of TYMS gene expression with TYMS and ENOSF1 genetic variants in neoadjuvant chemotherapy response of gastric cancer.

IF 1.7 Q3 PATHOLOGY

Journal of Pathology and Translational Medicine Pub Date : 2025-03-01 Epub Date: 2025-02-25 DOI:10.4132/jptm.2024.11.05

Khadijeh Arjmandi, Iman Salahshourifar, Shiva Irani, Fereshteh Ameli, Mohsen Esfandbod

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引用次数: 0

Abstract

Background: The present research was designed to study the associations between genetic variants of TYMS and ENOSF1 genes with TYMS and ENOSF1 gene expression in neoadjuvant chemotherapy response among patients with gastric cancer.

Methods: Formalin-embedded and paraffin-fixed matched tumor and normal gastric cancer tissue samples from patients who received neoadjuvant 5-fluorouracil (5-FU) treatment were obtained. DNA and RNA were extracted for all samples. A 28-bp variable number tandem repeat (VNTR) at the 5' untranslated region of TYMS gene and rs2612091 and rs2741171 variants in the ENOSF1 gene were genotyped for normal tissue samples. The real-time polymerase chain reaction method was used to study the expression of ENOSF1 and TYMS genes in both normal and tumor tissues. Data were analyzed using REST 2000 and SPSS ver. 26.0 software programs.

Results: A significant association between TYMS 2R3R VNTR genotypes and 5-FU therapy was found (p = .032). The 3R3R and 2R2R genotypes were significantly associated with increased and decreased survival time, respectively (p = .003). The 3R3R genotype was significantly associated with TYMS overexpression (p < .001). Moreover, a significant association was found between the rs2612091 genotype and treatment outcome (p = .017).

Conclusions: This study highlights the impact of TYMS and ENOSF1 genes as predictive indicators for survival and response to 5-FU-based neoadjuvant chemotherapy in gastric cancer patients.

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TYMS基因表达与TYMS和ENOSF1基因变异在胃癌新辅助化疗反应中的相关性研究。

背景：本研究旨在研究TYMS和ENOSF1基因的遗传变异与TYMS和ENOSF1基因表达在胃癌患者新辅助化疗反应中的关系。方法：对接受5-氟尿嘧啶（5-FU）新辅助治疗的胃癌患者进行福尔马林包埋和石蜡固定相匹配的肿瘤和正常胃癌组织标本。提取所有样品的DNA和RNA。在正常组织样本中，对TYMS基因5'非翻译区28bp可变数串联重复序列（VNTR）和ENOSF1基因rs2612091和rs2741171变异进行了基因分型。采用实时聚合酶链反应法研究ENOSF1和TYMS基因在正常组织和肿瘤组织中的表达。数据分析采用REST 2000和SPSS ver。26.0软件程序。结果：TYMS 2R3R VNTR基因型与5-FU治疗有显著相关性（p = 0.032）。3R3R和2R2R基因型分别与生存时间增加和减少显著相关（p = 0.003）。3R3R基因型与TYMS过表达显著相关（p < 0.001）。此外，rs2612091基因型与治疗结果之间存在显著相关性（p = 0.017）。结论：本研究强调了TYMS和ENOSF1基因作为胃癌患者生存和对5- fu新辅助化疗反应的预测指标的影响。

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

Journal of Pathology and Translational Medicine PATHOLOGY-

CiteScore

5.00

自引率

4.20%

发文量

审稿时长

14 weeks

期刊介绍： The Journal of Pathology and Translational Medicine is an open venue for the rapid publication of major achievements in various fields of pathology, cytopathology, and biomedical and translational research. The Journal aims to share new insights into the molecular and cellular mechanisms of human diseases and to report major advances in both experimental and clinical medicine, with a particular emphasis on translational research. The investigations of human cells and tissues using high-dimensional biology techniques such as genomics and proteomics will be given a high priority. Articles on stem cell biology are also welcome. The categories of manuscript include original articles, review and perspective articles, case studies, brief case reports, and letters to the editor.