PURPOSE: Survivin is undetectable in normal adult tissues, but has been shown to be overexpressed in various cancers and has been regarded as a marker of malignancy. Polymorphisms which increase the expression of survivin are potential risk factors for esophageal carcinogenesis. The aim of this study is to genotype the survivin promoter polymorphisms namely -31G/C, -241T/C, -625G/C, and -644T/C in esophageal squamous cell cancer patients and controls and to identify a possible association between individual genetic variation and susceptibility to esophageal squamous cell carcinoma (ESCC). METHODS: The expression of survivin in cancer tissues was detected by semiquantitative RT-PCR. A total of 221 Chinese ESCC patients and 268 cancer-free controls were evaluated for the four polymorphisms in survivin promoter. Polymorphisms were identified using the PCR-RFLP technique (-31G/C, -241T/C) or primer-introduced restriction analysis-PCR assay (-644T/C, -625G/C). RESULTS: Compared with the -625GG genotype, the -625CC genotype was associated with significant elevated risk of ESCC (OR = 2.404, 95% CI = 1.342-4.307). Furthermore, significant difference in survivin expression in esophageal squamous cell cancer tissues was found between subgroups with different -625G/C variants. When we examined the combined effect of the survivin promoter polymorphisms, the haplotypes constructed of -644T/C--625G/C--31G/C revealed significant associations with ESCC (global P = 0.0034). -644T--625C--31C was a risk haplotype for ESCC (P < 0.001) and -644T--625G--31C was a protective haplotype (P = 0.004). CONCLUSIONS: Our finding suggested that survivin promoter polymorphisms -625G/C might influence the susceptibility to ESCC in the Chinese population, maybe by influencing survivin expression.
PURPOSE: Survivin is undetectable in normal adult tissues, but has been shown to be overexpressed in various cancers and has been regarded as a marker of malignancy. Polymorphisms which increase the expression of survivin are potential risk factors for esophageal carcinogenesis. The aim of this study is to genotype the survivin promoter polymorphisms namely -31G/C, -241T/C, -625G/C, and -644T/C in esophageal squamous cell cancerpatients and controls and to identify a possible association between individual genetic variation and susceptibility to esophageal squamous cell carcinoma (ESCC). METHODS: The expression of survivin in cancer tissues was detected by semiquantitative RT-PCR. A total of 221 Chinese ESCC patients and 268 cancer-free controls were evaluated for the four polymorphisms in survivin promoter. Polymorphisms were identified using the PCR-RFLP technique (-31G/C, -241T/C) or primer-introduced restriction analysis-PCR assay (-644T/C, -625G/C). RESULTS: Compared with the -625GG genotype, the -625CC genotype was associated with significant elevated risk of ESCC (OR = 2.404, 95% CI = 1.342-4.307). Furthermore, significant difference in survivin expression in esophageal squamous cell cancer tissues was found between subgroups with different -625G/C variants. When we examined the combined effect of the survivin promoter polymorphisms, the haplotypes constructed of -644T/C--625G/C--31G/C revealed significant associations with ESCC (global P = 0.0034). -644T--625C--31C was a risk haplotype for ESCC (P < 0.001) and -644T--625G--31C was a protective haplotype (P = 0.004). CONCLUSIONS: Our finding suggested that survivin promoter polymorphisms -625G/C might influence the susceptibility to ESCC in the Chinese population, maybe by influencing survivin expression.
Authors: Stacey B Gabriel; Stephen F Schaffner; Huy Nguyen; Jamie M Moore; Jessica Roy; Brendan Blumenstiel; John Higgins; Matthew DeFelice; Amy Lochner; Maura Faggart; Shau Neen Liu-Cordero; Charles Rotimi; Adebowale Adeyemo; Richard Cooper; Ryk Ward; Eric S Lander; Mark J Daly; David Altshuler Journal: Science Date: 2002-05-23 Impact factor: 47.728
Authors: Whitney Salz; Dan Eisenberg; Janet Plescia; David S Garlick; Robert M Weiss; Xue-Ru Wu; Tung-Tien Sun; Dario C Altieri Journal: Cancer Res Date: 2005-05-01 Impact factor: 12.701
Authors: T Ito; K Shiraki; K Sugimoto; T Yamanaka; K Fujikawa; M Ito; K Takase; M Moriyama; H Kawano; M Hayashida; T Nakano; A Suzuki Journal: Hepatology Date: 2000-05 Impact factor: 17.425