Background: Gap junction protein beta 2 gene (GJB2) encodes one of connexins- Connexin 26 (Cx26), which mainly expressed in epithelial cells. Cx26 is usually considered a channel to exchange information between cells, which plays a critical role in tumor cell proliferation.
Objective: We investigated GJB2 rs2274084 polymorphism in three types of tumors, including nasophoryngeal carcinoma (NPC), gastric cancer (GC) and lymphoma.
Methods: Proteinase K digestion and phenolchloroform purification and QIAamp DNA FFPE tissue kit was used for DNA extraction. The genotype of GJB2 gene rs2274084 was detected through Sequenom MassARRAY SNP technique. The Chi-square test and Fisher's exact test were used to compare the differences between two groups.
Results: The genotype frequency of GJB2 gene rs2274084 was significantly different between EBV-positive NPC and normal control (P< 0.05). However, for EBV-associated gastric cancer (EBVaGC), EBV-negative gastric cancer (EBVnGC) and lymphoma, no significant differences were found in comparison with the normal control.
Conclusions: The mutation rate of TT genotype was a risk factor to the occurrence of EBV-positive NPC.
Keywords: Connexin 26; EBV; GJB2; NPC; SNP.