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Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms are Not Associated With Recurrent Aphthous
Chiara Magrì1, Alessia Vezzosi1, Angela Vinella2
1Interdisciplinary Department of Medicine, University of Bari "Aldo Moro", Bari, Italy.
International Dental Journal
|August 3, 2026
Summary
Methylenetetrahydrofolate reductase (MTHFR) gene variations are not linked to recurrent aphthous stomatitis (RAS) onset. However, homocysteine and folate levels correlate with RAS severity, suggesting metabolic factors influence disease presentation.
Area of Science:
- Genetics and Molecular Biology
- Oral Medicine
- Nutritional Biochemistry
Background:
- Recurrent aphthous stomatitis (RAS) is a common oral condition with multifactorial etiology.
- Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms have been explored as potential genetic risk factors for RAS.
- Investigating MTHFR polymorphisms and related metabolic markers may elucidate RAS pathogenesis.
Purpose of the Study:
- To determine the association between MTHFR C677T and A1298C polymorphisms and the occurrence of RAS.
- To evaluate the relationship between circulating homocysteine, folate, and vitamin B12 levels and RAS.
- To explore correlations between MTHFR genotypes, metabolic markers, and clinical parameters of RAS.
Main Methods:
- A case-control study involving 55 RAS patients and 55 controls.
- Genotyping for MTHFR C677T and A1298C polymorphisms using polymerase chain reaction.
- Measurement of plasma homocysteine, serum folate, and vitamin B12 levels via immunoassay techniques.
Main Results:
- No significant differences in MTHFR C677T or A1298C genotype frequencies between RAS patients and controls.
- Comparable mean levels of homocysteine, folate, and vitamin B12 between the two groups.
- Within the RAS group, episode frequency showed significant association with homocysteine and folate levels, not MTHFR genotypes.
Conclusions:
- MTHFR C677T and A1298C polymorphisms are not associated with the onset of recurrent aphthous stomatitis.
- Circulating homocysteine and folate levels are linked to specific indicators of RAS disease course, not its occurrence.
- Metabolic factors, specifically homocysteine and folate, may influence the phenotype and severity of RAS in certain individuals.
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