CDH1 genetic variants and its aberrant expression are the risk factors for colorectal cancer metastasis.

E-cadherin, encoded by the CDH1 gene, plays an essential role in epithelial cellular adhesion, and the loss of it has been reported to be associated with tumor progression and metastasis, potentially offer a glimpse in to the development of colorectal cancer. The present study aimed to explore effect of CDH1-160 polymorphism, CDH1 transcription and its protein E-cadherin expression on colorectal cancer, meanwhile uncovering the underlying mechanism. Specimens from cancer loci, adjacent cancer tissue, and distal normal tissue from colorectal cancer patients were collected for Hematoxylin-eosin staining to detect the histopathological change of colorectal mucosa. Direct sequencing and Quantitative Real-Time PCR were used to detect the CDH1 genotype and its mRNA expression, respectively. E-cadherin expression was detected using the ElivisionTM plus method. As a result, we found that the A allele of the CDH1-160 may be a protective gene against colorectal cancer, and the C > A polymorphism may regulate its transcription activity and expression of E-cadherin. The decrease of the CDH1 mRNA transcription level and the absence of E-cadherin on the cytomembrane may promote intestinal mucosal carcinogenesis and accelerate cancer cell metastasis. Deficiency of cytomembrane expression of E-cadherin protein may have some early warning signs for malignant lesions of the gut mucosa.