Published in:
01-10-2009 | Original Paper
Polymorphisms of survivin promoter are associated with risk of esophageal squamous cell carcinoma
Published in: Journal of Cancer Research and Clinical Oncology | Issue 10/2009
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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.