Meta-analysis of EGFR gene polymorphisms and lung cancer risk.

Objective: This meta-analysis aims to systematically evaluate the associations of four specific Single Nucleotide Polymorphisms (SNPs)-rs712829, rs712830, rs11568315, and rs884225-located in the promoter, intronic, and 3' untranslated regions (3'UTR) of the EGFR gene, with lung cancer risk.

Introduction: The associations between EGFR gene polymorphisms and lung cancer risk is a topic of ongoing debate, which is still deemed controversial. Despite numerous studies, results are inconsistent.

Methods: We conducted a comprehensive literature search across the PubMed, Science Direct, and Web of Science databases to identify relevant case-control studies examining the association between EGFR gene polymorphisms and lung cancer risk.

Results: From an initial pool of 26,959 articles, 10 case-control studies were included, involving 2471 lung cancer patients and 4489 controls. A significant association between rs712829 and increased lung cancer risk was found across multiple genetic models. Under the allelic contrast model (G vs T), the OR was 1.31 (95% CI = [1.02; 1.68], p < 0.05), the dominant model (GG + GT vs TT) showed an OR of 1.69 (95% CI = [1.07; 2.67], p < 0.05), the homozygote model (GG vs TT) yielded an OR of 1.70 (95% CI = [1.00; 2.88], p < 0.05), and the heterozygote model (GT vs TT) had an OR of 1.64 (95% CI = [1.01; 2.66], p < 0.05). No significant associations were found for rs11568315, rs712830, and rs884225.

Conclusion: The findings from the current meta-analysis confirm that rs712829 within the EGFR gene is significantly associated with lung cancer risk according to the allele, dominant, homozygote and heterozygote models.