Association between the methylene tetrahydrofolate reductase gene C677T mutation and colchicine unresponsiveness in Behcet's disease

Mol Vis. 2012;18:1696-700. Epub 2012 Jun 22.


Purpose: Behcet's disease (BD) is a multisystemic immunoinflammatory disorder characterized by mucocutaneous, ocular, vascular, and central nervous system manifestations. The common methylene tetrahydrofolate reductase (MTHFR) gene C677T mutation is a known risk factor for thrombosis. The aim of this study was to investigate the MTHFR gene C677 mutation in patients with BD and evaluate if there was an association with clinical features, especially thrombosis, in a relatively large cohort of patients with BD.

Methods: The study included 318 patients with BD and 207 healthy controls. Genomic DNA was isolated and genotyped using PCR-based restriction fragment length polymorphism assay for the MTHFR gene C677T mutation.

Results: The genotype and allele frequencies of the C677T mutation showed a statistically significant difference between BD patients and controls (p=0.003 and p=0.001, respectively). There was also a significant association between C677T alteration and response to colchicine in BD patients (p=0.046).

Conclusions: The results of this study showed that there was a high association between the MTHFR gene C677T mutation and BD. Stratification analysis according to clinical features for this disease did not reveal an association except response to colchicine that was shown to be influenced by the MTHFR C677T mutation.

MeSH terms

  • Adult
  • Alleles
  • Behcet Syndrome / drug therapy
  • Behcet Syndrome / genetics*
  • Case-Control Studies
  • Cohort Studies
  • Colchicine / therapeutic use*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Gout Suppressants / therapeutic use*
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Risk Factors
  • Treatment Failure


  • Gout Suppressants
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Colchicine