| Esophageal cancer is one of the most common malignancies in the world, and half of the new incidences of the world occurs in China. But to date, the molecular basis underlying the transformation of normal esophageal epithelia to squamous carcinoma of the esophagus is not well understood. Identifying key esophageal cancer related genes and their function is still an important project in exploring the mechanism of esophageal cancer. ECRG2 (Genebank AF 268198) and ECRG4 (Genebank AF 325503) are novel esophageal cancer suppressor genes cloned and identified in our lab.In the present study, we have screened the mutation status in the 4 exons of ECRG2 by SSCP and DHPLC techniques. We found a T-G somatic mutation in the first exon, which resulted in the substitution of Val - Gly in the signal peptides and probably played a role in the post-translation modification of ECRG2 protein.We have identified a short tandem repeat (STR) polymorphism in exon 4 of the ECRG2 gene and revealed three STR genotypes, i.e., TCA3/TCA3, TCA3/TCA4 and TCA4/TCA4, and investigated the impact of this ECRG2 STR polymorphism on risk of esophageal squamous cell carcinoma (ESCC) in case-control studies in two independent populations. We found that subjects who carried the TCA3/TCA3 genotype were at an increased risk of ESCC compared with those carrying the TCA4/TCA4 genotype, with the adjusted odds ratios (ORs) being 2.05 [95% confidence interval (CI), 1.02-4.06] for the subjects from Beijing, where is a low risk area of ESCC and 4.40 (95% CI, 1.93-10.01) for " the subjects from Linxian, a well-known high-risk area of ESCC. Using LIPOFECTAMIN 2000, we transfected the fourth exon, which carried TCA3/TCA3 or TCA4/TCA4 genotype respectively, into the esophageal cancer cell line EC9706. Our results showed that the TCA4/TCA4 genotype had suppressed the growth of the cells and the both genetypes had induced the apoptosis of the cancer cell line. These findings indicated for the first time that... |
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