Association of EGFR gene polymorphisms rs2072454 and rs2227983 with lung cancer susceptibility in a Western Algerian...

Data on specific single nucleotide polymorphisms (SNPs), including rs2072454 and rs2227983, remain limited, particularly in North African populations. This study aimed to evaluate the association between these two SNPs and lung cancer risk in a Western Algerian population.

This is a case-control study including 143 participants, 73 lung cancer patients recruited from the University Hospital Centre of Oran, and 70 healthy controls recruited from the blood transfusion centre of the University Hospital Establishment of Oran (UHEO) and volunteer pool. Genotyping of EGFR rs2072454 and rs2227983 polymorphisms was performed using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP). Statistical analyses were conducted using R software, with logistic regression models adjusted for gender and smoking status.

The CT genotype of rs2072454 showed a nominal association with increased lung cancer risk under the overdominant model (OR = 2.35, 95% CI: 1.04-5.30, p = 0.04). For rs2227983, while the dominant model (AG/ GG vs AA) demonstrated the best fit based on AIC/BIC criteria, however, only the AG genotype showed a borderline association in adenocarcinoma cases under the codominant model (OR = 2.76, 95% CI: 1.0-7.5, p = 0.04). No significant haplotype associations or linkage disequilibrium was observed between the two SNPs.

These findings suggest potential, but uncertain, associations between EGFR polymorphisms and lung cancer susceptibility in this population. The results should be interpreted cautiously due to the limited sample size and require validation in larger cohorts.