Background & objective: E-cadherin (CDH1) relates with invasion and metastasis of various cancers. Polymorphisms in the promoter region of E-cadherin gene may modify its transcriptional activity and protein level. This study was designed to investigate the correlation of CDH1 C-160A and G-347GA single nucleotide polymorphisms(SNPs) to susceptibilities and lymphatic metastases of esophageal squamous cell carcinoma (ESCC) and gastric cardiac adenocarcinoma (GCA) in northern China population.
Methods: CDH1 promoter SNPs (C-160A and G-347GA) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis in 333 ESCC patients, 239 GCA patients, and 343 healthy controls. The combined effect of C-160A and G-347GA was analyzed by EH software.
Results: The overall genotype and allelotype distributions of C-160A and G-347GA in ESCC and GCA patients were not significantly different from those in healthy controls (P = 0.08). When stratified by smoking status, family history of upper gastrointestinal cancer, and lymph node metastasis state, CDH1 SNPs also did not significantly influence the development and lymphatic metastasis of ESCC and GCA. However, compared with individuals with G-347GA G/G genotype, individuals with GA allele (G/GA or GA/GA genotype) had significantly higher risk to develop GCA [age and gender adjusted odds ratio (OR) = 1.45, 95% confidence interval (CI) = 1.03-2.04]. The haplotype distribution of CDH1 in the 333 ESCC patients was significantly different from that in the 343 healthy controls (P = 0.008). Compared with -160C/-347G haplotype, -160A/-347GA haplotype significantly increased the risk of developing ESCC (age and gender adjusted OR = 24.26, 95% CI = 3.25-180.87).
Conclusions: CDH1 C-160A SNP has no relation with susceptibility and lymphatic metastasis of ESCC and GCA. However, individuals with G-347GA GA allele have high risk of developing GCAu individuals with -160A/-347GA haplotype have high risk of developing ESCC.