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


CONCLUSIONS
The study results suggest that elevated plasma homocysteine level may play a role in the pathogenesis of venous thrombosis in BD.
D000328:Adult; D001528:Behcet Syndrome / Q000097:blood* / Q000150:complications / Q000235:genetics*; D005260:Female; D006710:Homocysteine / Q000097:blood*; D006720:Homozygote; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020246:Venous Thrombosis / Q000097:blood* / Q000235:genetics* / Q000503:physiopathology
D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)