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

## TL;DR

This study finds that a specific gene variant may predict whether lung cancer patients will respond to a certain chemotherapy drug.

## Contribution

The study identifies a genetic polymorphism linked to chemotherapy response in non-small cell lung cancer patients.

## Key findings

- The TT genotype of rs1044457 is more common in non-responders to gemcitabine-based chemotherapy.
- The T allele is significantly more frequent in non-responders compared to responders.
- The rs1044457 variant may serve as a risk factor for resistance to gemcitabine-based chemotherapy.

## 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.

Lung cancer is the leading cause of cancer‐related mortality worldwide. Among its types, non‐small cell lung cancer (NSCLC) accounts for the majority of cases. This study focuses on investigating genetic mutations that may influence the response to gemcitabine, a chemotherapy drug commonly used to treat this condition. Specifically, mutations in the rs1044457 variant can categorize patients into two groups: responders and non‐responders.