[A common mutation C677T in the 5,10-methyltetrahydrofolate reductase gene is associated to idiopathic deep venous thrombosis].
OBJECTIVE
Moderate hyperhomocysteinemia is a risk factor for deep venous thrombosis. The homozygous C677T methylenetetrahydrofolate reductase (MTHFR) mutation is associated with increased level of total plasma homocysteine. The association between homozygous C677T mutation and deep venous thrombosis is still controversial.


METHODS
In order to evaluate this association, we studied the prevalence of C677T mutation in 168 patients with confirmed deep venous thrombosis; 31 with an idiopathic deep venous thrombosis (group A) and 137 with thromboembolic event explained by one or more clinical and/or biological risk factors (group B).


RESULTS
The distribution of genotypes was different between group A and B [++/+ -/- -(n(%))] : 9(29)/10(32)/12(39) vs 16(12)/57(42)/64(46) (chi(2) : 6.03; P: 0.049). The comparison between homozygotes and the two other genotypes showed significant statistical relationship between homozygous genotype and idiopathic character of deep venous thrombosis (chi(2) : 6.01; P : 0.014; OR : 3.09 [IC 95% : 1.06-8.53]).


CONCLUSIONS
These results suggest that homozygous C677T methylenetetrahydrofolate reductase mutation could be considered as a genetic risk factor for venous thrombosis.
Berrut
G
G
Service de médecine B, CHU d'Angers, 4, rue Larrey, 49033 Angers cedex 01, France. giberrut@chu-angers.fr
Ghali
A
A
Quere
I
I
Ternisien
C
C
Gallois
I
I
Roy
P-M
PM
Marre
M
M
Fressinaud
P
P
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D012307:Risk Factors; D020246:Venous Thrombosis / Q000235:genetics* / Q000503:physiopathology
D042965:Methylenetetrahydrofolate Reductase (NADPH2)
La mutation C677T du gène de la 5,10-méthyltétrahydrofolate réductase est associée aux thromboses veineuses idiopathiques.