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Cyclin D1 (CCND1) plays a significant role in G1-S transition of cell cycle, and phosphatase and a tensin homologue (PTEN) negatively regulate cell cycle through phosphatidylinositol 3-kinase (PI3K)/AKT signaling. CCND1 and PTEN genetic polymorphisms might induce susceptibility to the occurrence of esophageal squamous cell carcinoma (ESCC). Three hundred and four ESCC patients and 413 healthy controls from Anyang, China, were enrolled in this study. All genotyping at CCND1 (807 G/A) and PTEN (rs701848 T/C and rs2735343 C/G) were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Unconditional logistic regression model was used to analyze the correlation between the polymorphisms and the susceptibility to develop ESCC. Statistically significant differences were observed between cases and controls in distribution of genotypes or alleles at PTEN rs701848 T/C and rs2735343 C/G, with either haplotype TG or CG possessing notably higher proportion in cases than in the controls. However, such difference could not be found in the distribution of the polymorphisms at CCND1 807 G/A. In summary, the polymorphisms of PTEN rs701848 T/C and rs2735343 C/G might represent crucial modifying factors for development of ESCC.

Genetic polymorphisms of CCND1 and PTEN in progression of esophageal squamous carcinoma