Combine testing of environmental exposure and epigenetic biomarker in the detection of oral cancer

Abstract

Background: The high incidence of oral cancer (OC) is directly related to betel nut chewing. Limited studies have reported the association between epigenetic biomarkers and/or environmental exposure to betel nuts in OC. Objects: The aim of this study was to identify the relationship between this environmental exposure and the DNA methylation status of several genes in OC. The genes evaluated included sex-determining region Y- box 1 (SOX1), paired box gene 1 (PAX1), and zinc-finger 582 (ZNF582). Methods: A age matched case-control study was conducted at Taipei Medical University Hospital, Taiwan. DNA was extracted from 37 cases and 40 controls oral swabs and the methylation status of three genes was determined by quantitative methylation polymerase chain reaction (QMSP). Result: Of all betel nut chewers, 88% exhibited high methylation levels of ZNF582. Combined testing of either SOX1 or PAX1, the 100% and 86.4% sensitivity were showed in betel free subjects and in betel chewer, respectively. Combined testing of SOX1 and PAX1methylation, the 91.7% and 100% specificity were showed in betel free subjects and in betel chewer, respectively. Conclusion: This is the first study proves a phenomenon of environmental- epigenetic interaction in OC. Further study should focus on those markers in larger populations, as well as their molecular functions in the carcinogenesis of OC.