THE ROLE OF GENETIC FACTORS IN THE PATHOGENESIS OF ORAL AND MAXILLOFACIAL DISEASES

Background: Both hereditary and environmental factors play essential roles in the complex diseases collectively
known as oral and maxillofacial diseases. The important role genetic factors play in susceptibility, development, and
treatment outcome of all sorts of diseases has been highlighted. Advances in molecular biology over the last several
years have made it clear.
Materials and Methods: This study was conducted as a narrative literature review based on systematic searches
across PubMed, Scopus, and Google Scholar databases. Relevant English-language articles published between 2015
and 2025 were selected using keywords such as genetic factors, oral and maxillofacial diseases, molecular
mechanisms, oral cancer, and craniofacial anomalies.
Results: The review revealed that several oral and maxillofacial disorders have strong genetic and molecular bases.
Mutations in MSX1, IRF6, and TP63 were linked to cleft lip and palate, while AMELX, ENAM, and DSPP mutations
contributed to hereditary enamel and dentin defects. In oral cancer, overexpression of oncogenes (EGFR, RAS) and
inactivation of tumor suppressor genes (TP53, RB1) were frequently observed, alongside epigenetic alterations.
Variants in inflammatory genes such as IL-1 and TNF-α were associated with increased susceptibility to periodontal
diseases.
Conclusions: It is crucial to understand the molecular and genetic causes of oral and maxillofacial diseases. Genetic
testing is indispensable for personalized treatment, for assessing risks and for early detection of disease. Multi-omic
research, gene therapy, and precision medicine advances all promise to transform the future patient care in oral and
maxillofacial healthcare fields. No matter existing problems such as access, complexity or ethical, they have great
prospects of accomplishment in time to save human costs.