Evaluation of Promoter Hypermethylation, Expression and, Oxytocin Receptor Gene (OXTR) Polymorphism with the Risk of Oral Squamous Cell Carcinoma

Background: Oral cancer refers to a subgroup of head and neck’s neoplasm. It is estimated that about ۹۰% of oral cancer is composed of OSCC. It frequently influences adult men, in particular, consumers of alcohol and tobacco users. OXTR is known as a G-protein receptor with seven transmembrane domains. G-proteins phosphatidylinositol-calcium as second messenger accomplishes its activity. PKC pathway activates through the receptor, in which the pathway has a role in cell proliferation and contraction. Material and methods: The present study was done to evaluate methylation, expression, and polymorphism of oxytocin receptor gene in both patients who suffer from OSCC and healthy samples. Promoter methylation status of the OXTR gene was evaluated in ۱۶۳ samples using MSP-PCR. Also, OXTR mRNA expression profiles were also considered in ۲۳ OSCC cases and ۲۰ controls, by real-time PCR. The present study evaluated the association of the gene polymorphisms, rs۲۲۵۴۲۹۸ and, rs۵۳۵۷۶, by using RFLP-PCR technique, with the risk of OSCC.Results: Promoter methylation assessment revealed a significant relationship between normal samples and patients. Our data showed that there is no significant linkage between occurrences of these single nucleotide polymorphisms and the risk of OSCC. Regarding allele frequency, no statistically significant differences were observed for A and G of rs۲۲۵۴۲۹۸ and rs۵۳۵۷۶ genes between OSCC patients and healthy groups. The relative expression of OXTR mRNA in cases showed no significant differences compared to controls The main purpose of this research was to evaluate the correlation of OXTR gene polymorphisms rs۵۳۵۷۶ rs۲۲۵۴۲۹۸ methylation, and expression pattern of this gene with the development of OSCC. Conclusion: OXTR methylation gene has an important role in performing OSCC.

Keywords:

OSCC , Oxytocin receptor gene , Expression , Methylation Specific PCR , RFLP-PCR , rs۲۲۵۴۲۹۸ , rs۵۳۵۷۶