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

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.