Correlation of E-cadherin gene polymorphisms and epidermal growth factor receptor mutation in lung adenocarcinoma.

Epithelial-mesenchymal transition (EMT) was recently discovered related to the efficacy of epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) in NSCLC patients and cell lines. In this study, we aimed to explore the association among the E-cadherin gene () genetic variants, TK-domain mutations of , and clinicopathologic characteristics in patients with lung adenocarcinoma. A total of 280 patients with lung adenocarcinoma were recruited between years 2012 and 2015. All subjects underwent the analysis of genetic variants (rs16260 and rs9929218) by real-time polymerase chain reaction (PCR) genotyping. The results showed that CA and CA + AA genotypes of single nucleotide polymorphism (SNP) rs16260 were significantly reverse associated with mutation type (Adjusted odds ratio (AOR) = 0.43, 95% CI = 0.20-0.92 and AOR = 0.46, 95% CI = 0.22-0.96, respectively) in female lung adenocarcinoma patients. Moreover, the significantly reverse associations between CA and CA + AA genotypes of rs16260 and hotspot mutations, namely L858R mutation and exon 19 in-frame deletion, were also demonstrated among female patients. Besides, CA + AA genotype of rs16260 was noted significantly reverse associated with the tumor sizes (OR = 0.31, 95% CI = 0.12-0.80; p = 0.012). In conclusion, our results suggested that variants are significantly reverse associated with mutation of tyrosine kinase, especially among the female patients with lung adenocarcinoma. The variants might contribute to pathological development in lung adenocarcinoma.