Methods: To continue investigating the association of WNT pathway genes with OSCC, we genotyped 188 individuals with OSCC and 225 healthy control individuals for five single nucleotide polymorphisms in beta-catenin (CTNNB1) and disheveled 2 (DVL2) genes. Study subjects were ascertained from the University of Pittsburgh Hillman Cancer Institute. Genomic DNA was extracted from blood samples. Genotyping was performed using Taqman chemistry in a ViiA7 sequence detection system. Statistical analysis was performed using PLINK 1.06 software to determine significant differences in allele frequencies for each polymorphism between OSCC cases and controls. A P-value≤0.05 was considered statistically significant. We also investigated the expression of DVL2 protein in a commercially available OSCC cell line (CRL-1623, ATCC).
Results: We found association of DVL2 SNPs rs2074222 (P = 0.01) and rs222836 (P=0.04) with OSCC. No association was found for CTNNB1 and OSCC. We also detected the presence of DVL2 protein expression in OSCC cells.
Conclusion: The associated DVL2 variants may increase an individual’s susceptibility to OSCC. Positive expression of DVL2 in OSCC cells suggests a possible role for this gene in the pathogenesis of the condition. Additional studies should focus on the role of DVL2 as a candidate gene for OSCC.