RGD Reference Report - Association of MTHFR gene C677T mutation with recurrent aphthous stomatitis and number of oral ulcers. - Rat Genome Database

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Association of MTHFR gene C677T mutation with recurrent aphthous stomatitis and number of oral ulcers.

Authors: Kalkan, G  Karakus, N  Yigit, S 
Citation: Kalkan G, etal., Clin Oral Investig. 2014;18(2):437-41. doi: 10.1007/s00784-013-0997-0. Epub 2013 May 11.
RGD ID: 10449402
Pubmed: PMID:23665953   (View Abstract at PubMed)
DOI: DOI:10.1007/s00784-013-0997-0   (Journal Full-text)

OBJECTIVES: Recurrent aphthous stomatitis (RAS) is a common ulcerative disease of the oral mucosa. Methylenetetrahydrofolate reductase (MTHFR) gene variants are associated with thrombophilia and vasculopathy that may result in oral ulceration. Oral ulcers are also the most common feature of Behcet's disease (BD). Association of MTHFR gene C677T mutation with BD has been reported in different populations. The aim of the present study was to investigate the possible association between MTHFR gene C677T mutation and RAS and evaluate if there was an association with clinical features in a relatively large cohort of Turkish patients. MATERIALS AND METHODS: The study included 188 patients affected by RAS and 200 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MTHFR gene C677T mutation. RESULTS: The genotype and allele frequencies of C677T mutation showed statistically significant differences between RAS patients and controls (p = 0.002 and p = 0.0004, respectively). After stratifying RAS patients according to clinical characteristics of oral ulcers, a significant association was observed between C677T mutation and number of oral ulcers of RAS patients (p = 0.006). CONCLUSIONS: As a result, a high association between MTHFR gene C677T mutation and RAS was observed in the present study. Also number of oral ulcers was found to be associated with MTHFR C677T mutation in RAS patients. CLINICAL RELEVANCE: If our observation can be substantiated with further studies, evaluation for MTHFR mutations and perhaps folate supplementation may become necessary in selected patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
aphthous stomatitis severityIAGP 10449402DNA:missense mutation:cds:677C>T (rs1801133) (human)RGD 
aphthous stomatitis severityISOMTHFR (Homo sapiens)10449402; 10449402DNA:missense mutation:cds:677C>T (rs1801133) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Recurrent aphthous stomatitis severityIAGP 10449402DNA:missense mutation:cds:677C>T (rs1801133)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Mus musculus)
Mthfr  (methylenetetrahydrofolate reductase)

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information