Correlation between phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene polymorphism and oral squamous cell carcinoma (OSCC) was investigated. A total of 33 OSCC patients were studied and 33 healthy individuals were included as the control group. Correlation between PTEN gene and OSCC was explored via quantitative polymerase chain reaction (qPCR), immunohistochemistry and western blot analysis. The PTEN gene polymorphism was detected via PCR-restriction fragment length polymorphism (PCR-RFLP), and its correlation with OSCC was explored. The immunohistochemical assay showed that the PTEN protein expression level significantly declined in OSCC patients (2.37±1.01 µg/l) compared with that in healthy subjects (3.09±0.95 µg/l). There was no significant difference in the rs2943773 genotype between control and experimental group (χ2=0.863, P=0.712), but there was a significant difference in the rs9651495 genotype between the two groups (P<0.05). The C/C genotype frequency of rs9651495 in OSCC patients (50.15%) was significantly higher than that in healthy subjects (23.71%) (P<0.05). The C/T genotype frequency of rs9651495 had no significant difference between the two groups (18.52 vs. 19.01%) (P>0.05). The T/T genotype frequency of rs9651495 in OSCC patients (31.33%) was obviously lower than that in healthy subjects (57.19%) (P<0.05). According to statistics, the PTEN protein expression level in patients with C/C genotype was remarkably lower than that in patients with other genotypes. There is a correlation between PTEN gene polymorphism and OSCC. Thereby, the higher C/C genotype frequency corresponds to the lower PTEN protein expression level, thus inducing OSCC.
Keywords: PTEN; gene polymorphism; genotype; immunohistochemistry; oral squamous cell carcinoma.