Abstract

The aetiology of oral squamous cell carcinoma (OSCC) remains unclear. Numerous single nucleotide polymorphisms (SNPs) associated with cancer have been identified using genome-wide association studies (GWAS). The present study was designed to identify common SNPs associated with cancer susceptibility and to evaluate their involvement in OSCC. Susceptible loci were identified by analysing a cancer GWAS catalogue. A multicentre case-control study using an OSCC and control population was performed for selected SNPs. The function of the selected locus and its associated gene was explored using a reverse transcription-polymerase chain reaction, enzyme linked immunosorbent assay and immunohistochemistry. The association between genotypes and clinical parameters was assessed in 76 patients with OSCC. Rs2294008 located in the prostate stem cell antigen gene (PSCA) was selected. It was identified that the rs2294008 polymorphism was associated with OSCC susceptibility and PSCA may be involved in the development, progression and prognosis of OSCC.

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