The tumor suppressor gene phosphatase and tensin homologue (PTEN) plays a significant role in regulating cell growth, proliferation, and apoptosis. However, there are no data regarding the role of PTEN polymorphisms in the development of oral squamous cell carcinoma (OSCC). A hospital-based case-control study was conducted to investigate the potential association between PTEN polymorphisms and the risk of OSCC in a Chinese Han population. The study population comprised 201 patients with OSCC and 199 healthy controls. Seventeen single-nucleotide polymorphisms (SNPs) of PTEN were investigated and genotyped using Sequenom Mass ARRAY and iPLEX-MALDI-TOF technology. The observed genotype frequencies of these polymorphisms were in agreement with Hardy-Weinberg equilibrium in the control group (P > 0.05 for all). The heterozygous CT genotype was not associated with significantly increased risk for OSCC (OR = 0.89, 95 % CI = (0.55-1.42), P = 0.83), the TT genotype was not associated with increased risk for OSCC (OR = 1.01, 95 % CI = (0.58-1.74), P = 0.74) compared to the PTEN SNP rs1234224 homozygous CC genotype. Meanwhile, CT/TT variants were not associated with increased risk for OSCC compared with the CC genotype (OR = 0.93, 95 % CI = 0.60-1.44, P = 0.73). The T allele was not associated with significantly increased risk compared to the C allele (OR = 0.99, 95 % CI = 0.72-1.58, P = 0.69). Similar associations with the risk of OSCC were observed for the other genotypes of PTEN gene polymorphisms. There were no significant differences in the distribution of the genotype and allele frequencies of polymorphisms of the PTEN gene between the OSCC patients and controls in a Chinese Han population. Further studies are needed to clarify the specific roles of PTEN polymorphisms in the etiology of OSCC.
Keywords: Oral squamous cell carcinoma; PTEN; Single-nucleotide polymorphism; Susceptibility.