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CMPK1基因中Rs1044457多态性对转移性非小细胞肺癌患者吉西他滨化疗反应率的影响

The Impact of the Rs1044457 Polymorphism in the CMPK1 Gene on the Response Rate to Gemcitabine-Based Chemotherapy in Metastatic NSCLC Patients.

作者信息

Saleh Ghassan Saod, Gatea Fouad Kadhim, Al-Mayah Qasim Sharhan, Lazim Hayder

机构信息

Ministry of Health, Salahuddin Health Directory Al-Alam General Hospital Salahuddin Iraq.

Department of Pharmacology and Therapeutics College of Medicine Al-Nahrain University Baghdad Iraq.

出版信息

Adv Genet (Hoboken). 2025 Apr 4;6(2):2400058. doi: 10.1002/ggn2.202400058. eCollection 2025 Jun.

Abstract

This study aims to evaluate the role of a specific gene polymorphism, Cytidine/Uridine Monophosphate Kinase 1 (CMPK1) rs1044457, in predicting the response to gemcitabine-based chemotherapy in patients with NSCLC. A total of 98 NSCLC patients are enrolled in the study. Based on their response, patients are classified as either responders or non-responders. Specific primers are designed to amplify the rs1044457 variant and performed genotyping using restriction fragment length polymorphism (RFLP). The rs1044457 variant showed a statistically significant difference in frequency between responder and non-responder patients. The mutant genotype (TT) is more frequent in non-responder patients (18.75%) compared to responder patients (4%), with an odds ratio [OR] of 5.93 (95% confidence interval [CI] = 1.16-30.25, p = 0.032). Additionally, at the allelic level, the mutant allele (T) is more common in non-responder patients (36.46%) compared to responder patients (23%), with a statistically significant odds ratio of 1.92 (95% CI = 1.03-3.58, p = 0.040). The findings of this study suggest that the mutant allele (allele T) of the rs1044457 variant may serve as a risk factor for resistance to gemcitabine-based chemotherapy in patients with NSCLC.

摘要

本研究旨在评估特定基因多态性——胞苷/尿苷单磷酸激酶1(CMPK1)rs1044457在预测非小细胞肺癌(NSCLC)患者对吉西他滨为基础的化疗反应中的作用。共有98例NSCLC患者纳入本研究。根据患者的反应,将其分为反应者和无反应者。设计特异性引物扩增rs1044457变异体,并使用限制性片段长度多态性(RFLP)进行基因分型。rs1044457变异体在反应者和无反应者患者中的频率显示出统计学上的显著差异。与反应者患者(4%)相比,突变基因型(TT)在无反应者患者中更常见(18.75%),优势比[OR]为5.93(95%置信区间[CI]=1.16 - 30.25,p = 0.032)。此外,在等位基因水平上,与反应者患者(23%)相比,突变等位基因(T)在无反应者患者中更常见(36.46%),统计学上显著的优势比为1.92(95% CI = 1.03 - 3.58,p = 0.040)。本研究结果表明,rs1044457变异体的突变等位基因(等位基因T)可能是非小细胞肺癌患者对吉西他滨为基础的化疗耐药的危险因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abe7/12245479/2516509d91a8/GGN2-6-2400058-g005.jpg

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