Journal Article

The <i>E-cadherin</i> −347G→GA promoter polymorphism and its effect on transcriptional regulation

Yong Shin, Il-Jin Kim, Hio Chung Kang, Jae-Hyun Park, Hye-Rin Park, Hye-Won Park, Mi Ae Park, Jong Soo Lee, Kyong-Ah Yoon, Ja-Lok Ku and Jae-Gahb Park

in Carcinogenesis

Volume 25, issue 6, pages 895-899
Published in print June 2004 | ISSN: 0143-3334
Published online June 2004 | e-ISSN: 1460-2180 | DOI: https://dx.doi.org/10.1093/carcin/bgh073
The E-cadherin −347G→GA promoter polymorphism and its effect on transcriptional regulation

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E-cadherin plays a critical role in epithelial cell–cell adhesion and maintenance of tissue architecture. Loss of E-cadherin expression in humans has been associated with cancer, and a number of cancer-related mutations have been identified. Here, we sought to investigate whether the −347G→GA single nucleotide polymorphism affects the transcriptional activity of the E-cadherin gene. First, we measured the promoter activity of the −347G→GA polymorphism using a dual luciferase reporter assay and electrophoretic mobility shift assay (EMSA). The dual luciferase reporter assay showed that the GA allele decreased the transcriptional efficiency by 10-fold (P < 0.001) compared with the G allele. Similarly, EMSA revealed that the GA allele had a weak transcription factor binding strength compared with the G allele. We then examined the frequency of this polymorphism in familial gastric cancer (FGC) patients by denaturing high-performance liquid chromatography. We found that the E-cadherin genotype (−347G/GA heterozygous or GA homozygous) was associated with FGC patients (P < 0.05) compared with the G homozygous genotype. Taken together, these results suggest that the GA allele may cause weak transcription factor binding affinity and low transcriptional activity in E-cadherin expression.

Keywords: DHPLC, denaturing high-performance liquid chromatography; EMSA, electrophoretic mobility shift assay; FGC, familial gastric cancer; PCR–RFLP, polymerase chain reaction–restriction fragment length polymorphism; SNP, single nucleotide polymorphism

Journal Article.  3288 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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