Methylenetetrahydrofolate reductase gene C677T mutation and plasma homocysteine level in Behçet's disease

Rheumatol Int. 2003 Sep;23(5):236-40. doi: 10.1007/s00296-003-0301-8. Epub 2003 Mar 14.


Objective: The aim of this study was to assess whether homozygosity for the 5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation and plasma homocysteine concentration are related to deep vein thrombosis in Behçet's disease (BD) patients.

Methods: Forty BD patients (23 males, 17 females; mean age 40.2+/-8.4 years) and 60 healthy controls (HC) (34 males, 26 females; mean age 41.6+/-6.9 years) were included in the study. Fourteen of the BD patients had a history of deep venous thrombosis (DVT), as confirmed by Doppler ultrasound.

Results: The rates of homozygosity for the MTHFR C677T mutation in the BD and HC groups were 7.5% and 10%, respectively. The distribution of MTHFR genotypes was similar in the two groups ( p>0.05), and analysis showed that homozygosity for the mutation was not a risk factor for DVT. The mean plasma homocysteine levels were 13.4+/-4.2 micro mol/l for the overall BD patients and 12.6+/-3.8 micromol/l for HC ( p>0.05). However, the mean plasma homocysteine level in the BD patients with DVT history (15.9+/-4.6 micromol/l) was significantly higher than the level in the BD patients with no DVT history (12.1+/-3.3 micromol/l) ( p=0.013) and the level in the HC group (12.6+/-3.8 micromol/l) ( p=0.025).

Conclusion: The study results suggest that elevated plasma homocysteine level may play a role in the pathogenesis of venous thrombosis in BD.

MeSH terms

  • Adult
  • Behcet Syndrome / blood*
  • Behcet Syndrome / complications
  • Behcet Syndrome / genetics*
  • Female
  • Homocysteine / blood*
  • Homozygote
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Mutation / genetics
  • Venous Thrombosis / blood*
  • Venous Thrombosis / genetics*
  • Venous Thrombosis / physiopathology


  • Homocysteine
  • Methylenetetrahydrofolate Reductase (NADPH2)