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Updated: Feb 8, 2026

Author Spotlight: Unlocking the Mysteries of Oral Potential Malignancies
Published on: August 11, 2023
Associations Between MTHFR Polymorphisms and the Risk of Potentially Malignant Oral Disorders
Thomas Senghore1, Yu-Feng Li2, Fung-Chang Sung3
1School of Public Health, College of Public Health, Taipei Medical University, Taipei, Taiwan, R.O.C.
Aim:
The study aimed to investigate the role of two polymorphisms of methylenetetrahydrofolate reductase (MTHFR), C677T and A1298C, in the risk of potentially malignant oral disorders (PMODs).
Materials And Methods:
Genotypes of the MTHFR C677T and A1298C polymorphisms were determined using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) for 224 PMOD cases and 485 age-matched controls.
Results:
The C677T T allele-carrying genotypes were significantly associated with a decreased risk of PMODs [odds ratio (OR)=0.62, 95% confidence interval (CI)=0.44-0.86]. Haplotype analysis also indicated that the 677T/1298A haplotype was associated with a decreased risk of PMODs (OR=0.56, 95%CI=0.40-0.80). No significant interaction was observed between MTHFR polymorphisms and lifestyle factors.
Conclusion:
Our findings suggest that the T-allele-carrying MTHFR C677T genotype or haplotype may reduce the risk of PMODs. However, these observations require further confirmation using larger samples.
Insights
The T allele of the methylenetetrahydrofolate reductase (MTHFR) C677T gene variant may lower the risk of potentially malignant oral disorders (PMODs). This protective effect was also observed with a specific MTHFR haplotype.
Area of Science:
- Genetics
- Oral Pathology
- Molecular Biology
Background:
- Potentially malignant oral disorders (PMODs) represent a significant health concern.
- Genetic factors, including MTHFR gene polymorphisms, are increasingly recognized for their role in disease susceptibility.
- Understanding the genetic basis of PMODs is crucial for risk assessment and prevention.
Purpose of the Study:
- To investigate the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms (C677T and A1298C) and the risk of developing potentially malignant oral disorders (PMODs).
Main Methods:
- Genotyping of MTHFR C677T and A1298C polymorphisms was performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).
- A case-control study design was employed, comparing 224 PMOD cases with 485 age-matched controls.
- Statistical analyses included assessing genotype and haplotype associations with PMOD risk.
Main Results:
- Carriage of the T allele for the MTHFR C677T polymorphism was significantly associated with a reduced risk of PMODs (OR=0.62, 95% CI=0.44-0.86).
- Haplotype analysis revealed that the 677T/1298A haplotype also conferred a decreased risk of PMODs (OR=0.56, 95% CI=0.40-0.80).
- No significant interactions were found between MTHFR polymorphisms and common lifestyle factors.
Conclusions:
- The MTHFR C677T genotype (T-allele carriers) and the 677T/1298A haplotype may offer a protective effect against potentially malignant oral disorders.
- Further validation with larger sample sizes is warranted to confirm these findings.
- These genetic insights could contribute to future strategies for PMOD risk stratification.
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