Related Experiment Video
Updated: Jul 17, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
Published on: April 19, 2013
Functional analysis and case-control study of -160C/A polymorphism in the E-cadherin gene promoter: association with
Francesca Cattaneo1, Tiziana Venesio, Sara Molatore
1Department of Genetics and Microbiology, University of Pavia, 27100 Pavia, Italy.
Background:
A C-->A polymorphism within the CDH1 (E-cadherin) promoter seems to be associated with a reduced efficiency of gene transcription in vitro. Due to the crucial role of E-cadherin in epithelia, tissue-specific effect of C-->A change on CDH1 transcription was tested and a case-control study was performed on patients affected with epithelial tumors.
Patients And Methods:
The -178/+93 CDH1 region containing either C or A nucleotide was inserted upstream of the Luciferase reporter gene in the pGL-2 vector, and the construct activity was assessed by transient transfection assay in HeLa and HCT116 cells.
Results:
A significantly lower activity for pGL-2A was found compared to pGL-2C, both in HeLa (54% decrease) and in HCT116 (67% decrease) cells. Genotyping of 246 controls and 505 patients affected with breast, gastric, colorectal, cervical and endometrial cancers demonstrated an association between the A allele and an increased risk of colorectal, gastric and endometrial tumors (1.66-, 1.81- and 2.35-fold, respectively).
Conclusion:
Our data support the notion that the A allele may act as a low-penetrance cancer susceptibility gene.
Related Concept Videos
Cadherins in Tissue Organization
Cell Sorting During Development
Cell sorting plays an...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Cancer Prevention
Some...
Structure of Cadherins
Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Mutagenicity and Carcinogenicity
