Thrombophilic polymorphisms - factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T - in Tunisian patients with cerebral venous thrombosis.
Cerebral venous thrombosis (CVT) has been associated with thrombophilic defects. We performed a study to evaluate the role of three single nucleotide polymorphisms (SNP), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFR-C677T), as risk factors for CVT in Tunisian patients. A single center case-control study (26 patients with CVT and 197 controls) was performed. Genomic DNA was tested for the three SNP. The principle finding was the association between FVL and CVT (p<0.001, Odds ratio=6.1, 95% confidence interval=2.3-16.5). However, neither the FII-G20210 (p=0.536) nor the homozygous MTHFR-C677T genotype (p=0.325) variant contributed to the risk of CVT in these Tunisian patients.
Hematology Department, Military Hospital, Place de Tunis, Montfleury, Tunis 1008, Tunisia. olfaberrabah@yahoo.fr
Olfa
O
Ben Salem-Berrabah
Nejiba
N
Fekih-Mrissa
Brahim
B
N'siri
Abdelmajid
A
Ben Hamida
Amel
A
Benammar-Elgaaied
Nasreddine
N
Gritli
Ridha
R
Mrissa
D000293:Adolescent; D000328:Adult; D000368:Aged; D005165:Factor V / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D020767:Intracranial Thrombosis / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D014416:Tunisia; D020246:Venous Thrombosis / Q000235:genetics*; D055815:Young Adult
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)