Functional analysis and case-control study of -160C/A polymorphism in the E-cadherin gene promoter

Association with cancer risk

Francesca Cattaneo, Tiziana Venesio, Sara Molatore, Antonio Russo, Roberto Fiocca, Milo Frattini, A. Ivana Scovassi, Laura Ottini, Lucio Bertario, Guglielmina Nadia Ranzani

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)4627-4632
Number of pages6
JournalAnticancer Research
Volume26
Issue number6 B
Publication statusPublished - Nov 2006

Fingerprint

Cadherins
Case-Control Studies
Alleles
Genes
HCT116 Cells
Neoplasms
Penetrance
Neoplasm Genes
Endometrial Neoplasms
Luciferases
Reporter Genes
HeLa Cells
Uterine Cervical Neoplasms
Stomach Neoplasms
Transfection
Colorectal Neoplasms
Stomach
Epithelium
Nucleotides
Breast Neoplasms

Keywords

  • Cancer risk
  • CDH1 gene
  • Epithelial cells
  • Polymorphism
  • Promoter

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Functional analysis and case-control study of -160C/A polymorphism in the E-cadherin gene promoter : Association with cancer risk. / Cattaneo, Francesca; Venesio, Tiziana; Molatore, Sara; Russo, Antonio; Fiocca, Roberto; Frattini, Milo; Scovassi, A. Ivana; Ottini, Laura; Bertario, Lucio; Ranzani, Guglielmina Nadia.

In: Anticancer Research, Vol. 26, No. 6 B, 11.2006, p. 4627-4632.

Research output: Contribution to journalArticle

Cattaneo, F, Venesio, T, Molatore, S, Russo, A, Fiocca, R, Frattini, M, Scovassi, AI, Ottini, L, Bertario, L & Ranzani, GN 2006, 'Functional analysis and case-control study of -160C/A polymorphism in the E-cadherin gene promoter: Association with cancer risk', Anticancer Research, vol. 26, no. 6 B, pp. 4627-4632.
Cattaneo, Francesca ; Venesio, Tiziana ; Molatore, Sara ; Russo, Antonio ; Fiocca, Roberto ; Frattini, Milo ; Scovassi, A. Ivana ; Ottini, Laura ; Bertario, Lucio ; Ranzani, Guglielmina Nadia. / Functional analysis and case-control study of -160C/A polymorphism in the E-cadherin gene promoter : Association with cancer risk. In: Anticancer Research. 2006 ; Vol. 26, No. 6 B. pp. 4627-4632.
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